Variation Browser
DownloadReceptor | Position | GPCRdb | Segment | Variant | Mutation type | Allele Frequency | Allele Count | Allele Number | Homozygotes | SIFT score | PolyPhen score | Functional annotation |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Receptor | Position | GPCRdb | Segment | Variant | Mutation Type | Allele Frequency | Allele Count | Allele Number | Homozygotes | SIFT score | PolyPhen score | Functional annotation |
gabr2_human | 856 | C-term | N => LysfsTer99 | frameshift | 8.238e-06 | 1 | 121392 | 0 | None | None | ||
gabr2_human | 830 | C-term | H => ThrfsTer25 | frameshift | 8.236e-06 | 1 | 121412 | 0 | None | None | ||
gabr2_human | 641 | ECL2 | I => LeufsTer10 | frameshift | 8.245e-06 | 1 | 121292 | 0 | None | None | ||
gabr2_human | 340 | N-term | R => SerfsTer63 | frameshift | 8.237e-06 | 1 | 121410 | 0 | None | None | ||
gabr2_human | 108 | N-term | C => Ter | stop gained | 8.245e-06 | 1 | 121286 | 0 | None | None | ||
gabr2_human | 935 | C-term | R => Q | missense | 3.94e-05 | 2 | 50756 | 0 | nan | 0.003 | ||
gabr2_human | 929 | C-term | H => R | missense | 3.613e-05 | 2 | 55350 | 0 | nan | 0.777 | ||
gabr2_human | 926 | C-term | R => S | missense | 3.874e-05 | 2 | 51632 | 0 | nan | 0.866 | ||
gabr2_human | 926 | C-term | R => C | missense | 5.81e-05 | 3 | 51632 | 0 | nan | 0.925 | ||
gabr2_human | 923 | C-term | A => T | missense | 6.009e-05 | 3 | 49924 | 0 | nan | 0.002 | ||
gabr2_human | 919 | C-term | V => I | missense | 0.0001971 | 10 | 50736 | 0 | nan | 0.104 | ||
gabr2_human | 912 | C-term | A => V | missense | 1.888e-05 | 1 | 52968 | 0 | nan | 0.867 | ||
gabr2_human | 912 | C-term | A => T | missense | 7.648e-05 | 4 | 52304 | 0 | nan | 0.773 | ||
gabr2_human | 908 | C-term | G => R | missense | 1.84e-05 | 1 | 54338 | 0 | nan | 0.999 | ||
gabr2_human | 906 | C-term | S => T | missense | 1.794e-05 | 1 | 55744 | 0 | nan | 0.535 | ||
gabr2_human | 905 | C-term | P => Q | missense | 1.786e-05 | 1 | 56004 | 0 | nan | 0.999 | ||
gabr2_human | 902 | C-term | A => T | missense | 1.775e-05 | 1 | 56344 | 0 | nan | 0.783 | ||
gabr2_human | 879 | C-term | I => V | missense | 3.295e-05 | 4 | 121388 | 0 | nan | 0.01 | ||
gabr2_human | 876 | C-term | K => E | missense | 1.648e-05 | 2 | 121394 | 0 | nan | 0.038 | ||
gabr2_human | 873 | C-term | R => Q | missense | 6.59e-05 | 8 | 121396 | 0 | nan | 0.042 | ||
gabr2_human | 872 | C-term | S => C | missense | 8.238e-06 | 1 | 121396 | 0 | nan | 0.97 | ||
gabr2_human | 869 | C-term | T => A | missense | 0.1938 | 23531 | 121396 | 2533 | nan | 0.0 | ||
gabr2_human | 859 | C-term | D => N | missense | 0.0001483 | 18 | 121396 | 0 | nan | 0.039 | ||
gabr2_human | 857 | C-term | H => R | missense | 8.238e-06 | 1 | 121392 | 0 | nan | 0.084 | ||
gabr2_human | 854 | C-term | L => F | missense | 5.767e-05 | 7 | 121386 | 0 | nan | 0.942 | ||
gabr2_human | 849 | C-term | G => E | missense | 8.24e-06 | 1 | 121360 | 0 | nan | 0.36 | ||
gabr2_human | 836 | C-term | D => Y | missense | 2.471e-05 | 3 | 121412 | 0 | 0.0 | 0.184 | ||
gabr2_human | 835 | C-term | N => H | missense | 8.236e-06 | 1 | 121412 | 0 | 0.01 | 0.859 | ||
gabr2_human | 830 | C-term | H => D | missense | 8.237e-06 | 1 | 121410 | 0 | 0.06 | 0.271 | ||
gabr2_human | 829 | C-term | N => S | missense | 8.236e-06 | 1 | 121412 | 0 | 0.03 | 0.066 | ||
gabr2_human | 823 | C-term | T => I | missense | 2.471e-05 | 3 | 121412 | 0 | 0.08 | 0.941 | ||
gabr2_human | 815 | C-term | Q => K | missense | 5.766e-05 | 7 | 121410 | 0 | 0.43 | 0.644 | ||
gabr2_human | 814 | C-term | M => V | missense | 8.237e-06 | 1 | 121410 | 0 | 0.36 | 0.437 | ||
gabr2_human | 797 | C-term | R => H | missense | 8.251e-06 | 1 | 121198 | 0 | 0.15 | 0.107 | ||
gabr2_human | 787 | C-term | R => H | missense | 1.648e-05 | 2 | 121364 | 0 | 0.12 | 0.469 | ||
gabr2_human | 776 | C-term | S => L | missense | 8.237e-06 | 1 | 121402 | 0 | 0.06 | 0.129 | ||
gabr2_human | 773 | C-term | T => M | missense | 0.0001318 | 16 | 121404 | 0 | 0.12 | 0.719 | ||
gabr2_human | 770 | C-term | D => N | missense | 8.237e-06 | 1 | 121404 | 0 | 0.3 | 0.989 | ||
gabr2_human | 753 | 8.48x48 | H8 | A => S | missense | 8.255e-06 | 1 | 121138 | 0 | 0.03 | 0.212 | GP (contact) |
gabr2_human | 748 | 7.56x56 | TM7 | R => S | missense | 1.656e-05 | 2 | 120766 | 0 | 0.01 | 0.138 | |
gabr2_human | 748 | 7.56x56 | TM7 | R => K | missense | 1.657e-05 | 2 | 120728 | 0 | 0.43 | 0.104 | |
gabr2_human | 746 | 7.54x54 | TM7 | T => A | missense | 8.311e-06 | 1 | 120322 | 0 | 0.2 | 0.252 | |
gabr2_human | 741 | 7.49x49 | TM7 | V => M | missense | 3.512e-05 | 4 | 113900 | 0 | 0.03 | 0.782 | |
gabr2_human | 727 | 7.35x36 | TM7 | V => I | missense | 8.339e-06 | 1 | 119914 | 0 | 0.1 | 0.038 | |
gabr2_human | 724 | 7.32x33 | TM7 | V => M | missense | 8.322e-06 | 1 | 120164 | 0 | 0.02 | 0.616 | |
gabr2_human | 719 | 7.27x28 | TM7 | V => M | missense | 8.308e-06 | 1 | 120362 | 0 | 0.04 | 0.771 | |
gabr2_human | 716 | 7.24x25 | TM7 | Q => E | missense | 8.306e-06 | 1 | 120400 | 0 | 0.17 | 0.072 | |
gabr2_human | 704 | 6.51x51 | TM6 | I => V | missense | 8.283e-06 | 1 | 120730 | 0 | 1.0 | 0.078 | |
gabr2_human | 702 | 6.49x49 | TM6 | M => L | missense | 8.282e-06 | 1 | 120748 | 0 | 0.09 | 0.02 | |
gabr2_human | 692 | 6.39x39 | TM6 | I => V | missense | 3.318e-05 | 4 | 120564 | 0 | 0.31 | 0.181 | GP (contact) |
gabr2_human | 669 | 5.52x52 | TM5 | L => S | missense | 8.939e-06 | 1 | 111870 | 0 | 0.0 | 0.286 | |
gabr2_human | 662 | 5.45x45 | TM5 | A => T | missense | 8.246e-06 | 1 | 121264 | 0 | 0.03 | 0.815 | |
gabr2_human | 660 | 5.43x43 | TM5 | V => A | missense | 8.244e-06 | 1 | 121302 | 0 | 0.0 | 0.539 | |
gabr2_human | 660 | 5.43x43 | TM5 | V => I | missense | 8.244e-06 | 1 | 121304 | 0 | 1.0 | 0.854 | |
gabr2_human | 642 | ECL2 | R => L | missense | 3.297e-05 | 4 | 121314 | 0 | 0.59 | 0.018 | ||
gabr2_human | 642 | ECL2 | R => H | missense | 1.649e-05 | 2 | 121314 | 0 | 0.02 | 0.833 | ||
gabr2_human | 642 | ECL2 | R => C | missense | 5.77e-05 | 7 | 121310 | 0 | 0.07 | 0.87 | ||
gabr2_human | 641 | ECL2 | I => V | missense | 1.649e-05 | 2 | 121304 | 0 | 0.18 | 0.286 | ||
gabr2_human | 637 | ECL2 | R => Q | missense | 8.26e-06 | 1 | 121060 | 0 | 0.32 | 0.076 | ||
gabr2_human | 637 | ECL2 | R => W | missense | 8.275e-06 | 1 | 120844 | 0 | 0.01 | 0.979 | ||
gabr2_human | 633 | ECL2 | D => N | missense | 8.321e-06 | 1 | 120176 | 0 | 0.21 | 0.928 | ||
gabr2_human | 632 | ECL2 | P => L | missense | 8.336e-06 | 1 | 119960 | 0 | 0.05 | 0.054 | ||
gabr2_human | 631 | ECL2 | E => G | missense | 8.922e-06 | 1 | 112086 | 0 | 0.08 | 0.978 | ||
gabr2_human | 630 | ECL2 | M => V | missense | 8.881e-06 | 1 | 112604 | 0 | 0.54 | 0.022 | ||
gabr2_human | 629 | ECL2 | S => G | missense | 8.845e-06 | 1 | 113052 | 0 | 0.25 | 0.006 | ||
gabr2_human | 628 | ECL2 | Y => H | missense | 8.818e-06 | 1 | 113408 | 0 | 0.25 | 0.327 | ||
gabr2_human | 622 | ECL2 | R => Q | missense | 1.721e-05 | 2 | 116210 | 0 | 0.48 | 0.249 | ||
gabr2_human | 612 | 4.47x47 | TM4 | L => P | missense | 8.43e-06 | 1 | 118626 | 0 | 0.0 | 1.0 | |
gabr2_human | 604 | 4.39x39 | TM4 | M => V | missense | 8.456e-06 | 1 | 118256 | 0 | 0.01 | 0.046 | |
gabr2_human | 603 | 4.38x38 | TM4 | G => S | missense | 8.478e-06 | 1 | 117946 | 0 | 0.02 | 0.908 | |
gabr2_human | 601 | 4.36x36 | TM4 | V => M | missense | 8.503e-06 | 1 | 117612 | 0 | 0.0 | 0.987 | |
gabr2_human | 570 | 3.46x46 | TM3 | A => T | missense | 4.132e-05 | 5 | 121006 | 0 | 0.08 | 0.993 | |
gabr2_human | 548 | 3.24x24 | TM3 | T => N | missense | 8.238e-06 | 1 | 121392 | 0 | 0.31 | 0.856 | |
gabr2_human | 546 | 3.22x22 | TM3 | E => A | missense | 8.237e-06 | 1 | 121398 | 0 | 0.59 | 0.01 | |
gabr2_human | 518 | 2.37x37 | TM2 | Y => C | missense | 8.238e-06 | 1 | 121386 | 0 | 0.05 | 0.953 | |
gabr2_human | 513 | 12.51x51 | ICL1 | K => N | missense | 8.242e-06 | 1 | 121332 | 0 | 0.01 | 0.83 | |
gabr2_human | 512 | 12.50x50 | ICL1 | I => V | missense | 1.648e-05 | 2 | 121326 | 0 | 0.1 | 0.773 | |
gabr2_human | 507 | ICL1 | R => Q | missense | 4.165e-05 | 5 | 120060 | 1 | 0.03 | 0.984 | ||
gabr2_human | 493 | 1.51x51 | TM1 | M => V | missense | 8.241e-06 | 1 | 121340 | 0 | 0.24 | 0.072 | |
gabr2_human | 490 | 1.48x48 | TM1 | I => V | missense | 8.24e-06 | 1 | 121366 | 0 | 0.64 | 0.002 | |
gabr2_human | 475 | N-term | R => Q | missense | 2.472e-05 | 3 | 121338 | 0 | 0.42 | 0.066 | ||
gabr2_human | 475 | N-term | R => W | missense | 8.242e-06 | 1 | 121332 | 0 | 0.01 | 0.947 | ||
gabr2_human | 462 | N-term | E => K | missense | 0.0002497 | 30 | 120140 | 1 | 0.58 | 0.04 | ||
gabr2_human | 455 | N-term | T => N | missense | 7.421e-05 | 9 | 121276 | 0 | 0.16 | 0.006 | ||
gabr2_human | 453 | N-term | N => S | missense | 8.245e-06 | 1 | 121290 | 0 | 0.56 | 0.716 | ||
gabr2_human | 448 | N-term | T => A | missense | 8.244e-06 | 1 | 121306 | 0 | 0.73 | 0.022 | ||
gabr2_human | 447 | N-term | D => N | missense | 4.122e-05 | 5 | 121302 | 0 | 0.12 | 0.884 | ||
gabr2_human | 444 | N-term | A => T | missense | 8.244e-06 | 1 | 121296 | 0 | 0.01 | 0.044 | ||
gabr2_human | 435 | N-term | R => M | missense | 8.256e-06 | 1 | 121122 | 0 | 0.03 | 0.246 | ||
gabr2_human | 435 | N-term | R => K | missense | 2.477e-05 | 3 | 121122 | 0 | 0.89 | 0.0 | ||
gabr2_human | 423 | N-term | M => T | missense | 8.329e-06 | 1 | 120058 | 0 | 0.16 | 0.928 | ||
gabr2_human | 418 | N-term | R => W | missense | 8.387e-06 | 1 | 119230 | 0 | 0.13 | 0.995 | ||
gabr2_human | 408 | N-term | F => I | missense | 8.238e-06 | 1 | 121384 | 0 | 0.0 | 1.0 | ||
gabr2_human | 405 | N-term | E => K | missense | 8.238e-06 | 1 | 121396 | 0 | 0.26 | 0.022 | ||
gabr2_human | 403 | N-term | M => K | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 0.906 | ||
gabr2_human | 394 | N-term | T => M | missense | 4.118e-05 | 5 | 121408 | 0 | 0.12 | 0.575 | ||
gabr2_human | 393 | N-term | H => D | missense | 1.647e-05 | 2 | 121408 | 0 | 0.53 | 0.05 | ||
gabr2_human | 391 | N-term | T => M | missense | 7.413e-05 | 9 | 121404 | 0 | 0.1 | 0.867 | ||
gabr2_human | 384 | N-term | R => W | missense | 8.237e-06 | 1 | 121406 | 0 | 0.03 | 0.663 | ||
gabr2_human | 381 | N-term | R => W | missense | 8.237e-06 | 1 | 121400 | 0 | 0.0 | 0.87 | ||
gabr2_human | 378 | N-term | A => T | missense | 8.237e-06 | 1 | 121404 | 0 | 0.73 | 0.004 | ||
gabr2_human | 370 | N-term | Q => K | missense | 1.647e-05 | 2 | 121408 | 0 | 0.33 | 0.006 | ||
gabr2_human | 358 | N-term | A => T | missense | 8.237e-06 | 1 | 121410 | 0 | 0.42 | 1.0 | ||
gabr2_human | 355 | N-term | H => D | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 0.989 | ||
gabr2_human | 351 | N-term | P => R | missense | 8.236e-06 | 1 | 121412 | 0 | 0.34 | 0.165 | ||
gabr2_human | 349 | N-term | V => M | missense | 1.647e-05 | 2 | 121412 | 0 | 0.13 | 0.771 | ||
gabr2_human | 344 | N-term | N => K | missense | 1.647e-05 | 2 | 121412 | 0 | 0.91 | 0.01 | ||
gabr2_human | 341 | N-term | E => Q | missense | 8.237e-06 | 1 | 121398 | 0 | 0.16 | 0.954 | ||
gabr2_human | 335 | N-term | P => A | missense | 1.648e-05 | 2 | 121356 | 0 | 0.66 | 0.998 | ||
gabr2_human | 333 | N-term | K => T | missense | 8.705e-06 | 1 | 114878 | 0 | 0.42 | 0.254 | ||
gabr2_human | 327 | N-term | I => F | missense | 8.521e-06 | 1 | 117358 | 0 | 0.05 | 0.239 | ||
gabr2_human | 317 | N-term | V => A | missense | 8.36e-06 | 1 | 119616 | 0 | 0.21 | 0.031 | ||
gabr2_human | 315 | N-term | I => V | missense | 8.332e-06 | 1 | 120018 | 0 | 0.12 | 0.254 | ||
gabr2_human | 314 | N-term | Y => H | missense | 8.324e-06 | 1 | 120140 | 0 | 0.45 | 0.756 | ||
gabr2_human | 306 | N-term | N => Y | missense | 1.654e-05 | 2 | 120940 | 0 | 0.01 | 0.824 | ||
gabr2_human | 304 | N-term | R => Q | missense | 3.306e-05 | 4 | 120998 | 0 | 0.6 | 0.01 | ||
gabr2_human | 304 | N-term | R => W | missense | 8.262e-06 | 1 | 121030 | 0 | 0.03 | 0.733 | ||
gabr2_human | 301 | N-term | R => H | missense | 1.651e-05 | 2 | 121142 | 0 | 0.13 | 0.004 | ||
gabr2_human | 301 | N-term | R => P | missense | 8.255e-06 | 1 | 121142 | 0 | 0.38 | 0.313 | ||
gabr2_human | 295 | N-term | T => M | missense | 0.0001485 | 18 | 121240 | 0 | 0.16 | 0.001 | ||
gabr2_human | 294 | N-term | H => R | missense | 2.474e-05 | 3 | 121256 | 0 | 0.6 | 0.011 | ||
gabr2_human | 293 | N-term | V => M | missense | 8.247e-06 | 1 | 121254 | 0 | 0.18 | 0.164 | ||
gabr2_human | 286 | N-term | E => K | missense | 8.249e-06 | 1 | 121232 | 0 | 0.68 | 0.004 | ||
gabr2_human | 272 | N-term | M => T | missense | 8.342e-06 | 1 | 119870 | 0 | 0.0 | 0.816 | ||
gabr2_human | 270 | N-term | E => K | missense | 1.688e-05 | 2 | 118498 | 0 | 0.91 | 0.051 | ||
gabr2_human | 261 | N-term | A => T | missense | 1.648e-05 | 2 | 121396 | 0 | 0.26 | 0.052 | ||
gabr2_human | 258 | N-term | N => S | missense | 8.237e-06 | 1 | 121402 | 0 | 0.87 | 0.013 | ||
gabr2_human | 248 | N-term | V => M | missense | 4.942e-05 | 6 | 121400 | 0 | 0.0 | 0.734 | ||
gabr2_human | 239 | N-term | S => N | missense | 1.649e-05 | 2 | 121266 | 0 | 0.53 | 0.015 | ||
gabr2_human | 224 | N-term | I => V | missense | 4.951e-05 | 6 | 121186 | 0 | 0.36 | 0.607 | ||
gabr2_human | 222 | N-term | E => K | missense | 8.255e-06 | 1 | 121142 | 0 | 0.3 | 0.007 | ||
gabr2_human | 205 | N-term | V => I | missense | 2.475e-05 | 3 | 121214 | 0 | 0.28 | 0.007 | ||
gabr2_human | 200 | N-term | T => M | missense | 9.894e-05 | 12 | 121284 | 0 | 0.0 | 0.982 | PTM (Phosphorylation) | |
gabr2_human | 198 | N-term | V => M | missense | 8.243e-06 | 1 | 121310 | 0 | 0.0 | 0.999 | ||
gabr2_human | 189 | N-term | L => W | missense | 8.24e-06 | 1 | 121352 | 0 | 0.0 | 0.943 | ||
gabr2_human | 170 | N-term | P => R | missense | 8.25e-06 | 1 | 121214 | 0 | 0.0 | 0.327 | ||
gabr2_human | 147 | N-term | Q => H | missense | 4.12e-05 | 5 | 121366 | 0 | 0.12 | 0.382 | ||
gabr2_human | 138 | N-term | V => I | missense | 8.238e-06 | 1 | 121396 | 0 | 0.03 | 0.992 | ||
gabr2_human | 134 | N-term | V => I | missense | 2.471e-05 | 3 | 121400 | 0 | 0.31 | 0.93 | ||
gabr2_human | 127 | N-term | H => Q | missense | 8.237e-06 | 1 | 121406 | 0 | 0.19 | 0.657 | ||
gabr2_human | 125 | N-term | P => S | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 1.0 | ||
gabr2_human | 102 | N-term | R => W | missense | 1.916e-05 | 1 | 52184 | 0 | 0.23 | 0.044 | ||
gabr2_human | 90 | N-term | N => S | missense | 2.133e-05 | 2 | 93780 | 0 | 0.18 | 0.067 | ||
gabr2_human | 68 | N-term | V => A | missense | 9.757e-06 | 1 | 102490 | 0 | 0.9 | 0.011 | ||
gabr2_human | 68 | N-term | V => M | missense | 9.755e-06 | 1 | 102510 | 0 | 0.17 | 0.157 | ||
gabr2_human | 64 | N-term | L => F | missense | 1.006e-05 | 1 | 99452 | 0 | 0.48 | 0.04 | ||
gabr2_human | 59 | N-term | M => I | missense | 1.059e-05 | 1 | 94460 | 0 | 0.4 | 0.0 | ||
gabr2_human | 59 | N-term | M => L | missense | 1.077e-05 | 1 | 92880 | 0 | 1.0 | 0.0 | ||
gabr2_human | 55 | N-term | P => R | missense | 1.251e-05 | 1 | 79946 | 0 | 0.3 | 0.0 | ||
gabr2_human | 55 | N-term | P => L | missense | 2.502e-05 | 2 | 79946 | 0 | 0.2 | 0.0 | ||
gabr2_human | 46 | N-term | A => T | missense | 6.898e-05 | 1 | 14496 | 0 | 0.13 | 0.0 | ||
gabr2_human | 44 | N-term | R => Q | missense | 9.781e-05 | 1 | 10224 | 0 | nan | 0.0 |
Residue
- deleterious missense variants are shown in red
- tolerated missense variants are shown in green
- loss of function mutations ('stop gained' or 'frameshift' in the coding region) are shown in blue