Q9UN88
PR
Gene name |
GABRQ |
Protein name |
Gamma-aminobutyric acid receptor subunit theta |
Names |
GABA(A) receptor subunit theta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55879 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9UN88
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UN88-F1 | Predicted | AlphaFoldDB |
406 variants for Q9UN88
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA415033429 rs1556817716 |
2 | G>S | No |
ClinGen gnomAD |
|
|
rs1405607660 CA415033449 |
4 | R>* | No |
ClinGen TOPMed |
|
|
rs1556817722 CA415033523 |
8 | R>Q | No |
ClinGen gnomAD |
|
|
rs1332962724 CA415033591 |
12 | I>T | No |
ClinGen TOPMed |
|
|
CA415033590 rs1556817723 |
12 | I>V | No |
ClinGen gnomAD |
|
|
rs4996045 VAR_030761 CA415033607 |
15 | L>I | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA10543398 rs782786881 |
15 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA10543399 rs781983556 |
16 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA415033618 rs1556817732 |
17 | R>K | No |
ClinGen gnomAD |
|
|
CA415033621 rs1556817734 |
17 | R>S | No |
ClinGen gnomAD |
|
|
CA415033636 rs1316123802 |
19 | W>C | No |
ClinGen TOPMed |
|
|
CA10543400 rs782099717 |
21 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs782723455 CA10543401 |
22 | E>G | No |
ClinGen ExAC |
|
|
CA415033649 rs1381582374 |
22 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs781807016 CA10543402 |
23 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1556817738 CA415033674 |
25 | Y>F | No |
ClinGen gnomAD |
|
|
rs782549025 CA10543403 |
26 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs868983657 CA415033710 |
29 | I>F | No |
ClinGen gnomAD |
|
|
CA415033709 rs868983657 |
29 | I>V | No |
ClinGen gnomAD |
|
|
CA415033761 rs1556817746 |
33 | H>P | No |
ClinGen gnomAD |
|
|
rs782120505 CA10543405 |
33 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10543406 rs375153903 |
35 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 35 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 36 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468078043 CA415033793 |
37 | S>T | No |
ClinGen TOPMed |
|
|
rs1602810877 CA415033801 |
38 | S>C | No |
ClinGen Ensembl |
|
|
CA10543407 rs782619342 |
41 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176788072 CA415033821 |
42 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 44 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs183563437 CA10543410 |
49 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 50 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415034276 rs1445388850 |
51 | K>R | No |
ClinGen TOPMed |
|
|
CA10543418 rs782710957 |
53 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1339331150 CA415034303 |
53 | C>Y | No |
ClinGen TOPMed |
|
|
rs782131252 CA10543420 |
57 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10543421 rs782763426 |
60 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1602813877 CA415034416 |
61 | K>N | No |
ClinGen Ensembl |
|
|
CA10543422 rs201187854 |
62 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10543423 rs782462452 |
63 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs782313029 CA10543424 |
64 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 68 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415034528 rs1429433713 |
70 | Y>S | No |
ClinGen TOPMed |
|
|
CA10543427 rs782548142 |
71 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10543428 rs200034729 |
73 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868935588 CA337161727 |
73 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA415034557 rs868935588 |
73 | R>L | No |
ClinGen Ensembl |
|
|
rs200034729 CA10543429 |
73 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782617034 CA10543431 |
76 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782223410 CA10543432 |
76 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10543433 rs782330974 |
77 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA337161792 rs995996748 |
80 | G>R | No |
ClinGen Ensembl |
|
|
CA415035358 rs1556819084 |
81 | A>T | No |
ClinGen gnomAD |
|
|
rs1556819090 CA415035381 |
82 | P>H | No |
ClinGen gnomAD |
|
|
rs1462929309 CA415035379 |
82 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA415035399 rs1556819093 |
83 | V>L | No |
ClinGen gnomAD |
|
|
rs781799277 CA10543450 |
84 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 87 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356856170 CA415035498 |
88 | S>C | No |
ClinGen TOPMed |
|
|
rs782548151 CA10543451 |
89 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1602819474 CA415035549 |
91 | V>A | No |
ClinGen Ensembl |
|
|
rs1423609611 CA415035565 |
92 | T>M | Variant assessed as Somatic; 6.271e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs782655114 CA10543452 |
93 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 96 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556819098 CA415035641 |
96 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 100 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556819101 CA415035784 |
102 | M>T | No |
ClinGen gnomAD |
|
|
rs1481722572 CA415035940 |
105 | T>M | No |
ClinGen TOPMed |
|
|
CA337164257 rs948376535 |
106 | I>F | No |
ClinGen TOPMed |
|
|
rs782095317 CA10543462 |
107 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA337164258 rs201867315 |
108 | M>K | No |
ClinGen 1000Genomes |
|
|
CA337164259 rs201867315 |
108 | M>T | No |
ClinGen 1000Genomes |
|
|
CA337164261 rs376599149 |
109 | F>C | No |
ClinGen ESP TOPMed |
|
|
rs1244118206 CA415036011 |
110 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1244118206 CA415036013 |
110 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1569453284 CA415036030 |
111 | H>P | No |
ClinGen Ensembl |
|
|
CA415036073 rs1556819311 |
114 | W>* | No |
ClinGen gnomAD |
|
|
CA415036096 rs1208090501 |
115 | K>N | No |
ClinGen TOPMed |
|
|
rs782736275 CA10543463 |
118 | R>C | Variant assessed as Somatic; 6.247e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781815409 CA10543464 |
118 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs139879891 CA10543465 |
119 | L>F | No |
ClinGen 1000Genomes ESP ExAC |
|
| TCGA novel | 120 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10543467 rs143264672 |
122 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 124 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415036459 rs1205434287 |
131 | D>G | No |
ClinGen TOPMed |
|
|
rs782604081 CA10543469 |
132 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs782446547 CA10543471 |
133 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10543470 rs781813117 |
133 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA415036541 rs1569453305 |
134 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1282118717 CA415036577 |
135 | H>R | No |
ClinGen TOPMed |
|
|
rs1363619846 CA415036569 |
135 | H>Y | No |
ClinGen TOPMed |
|
|
rs782567078 CA10543472 |
136 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10543474 rs782401570 |
141 | P>L | No |
ClinGen ExAC |
|
|
rs151198422 CA337164311 |
141 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10543475 rs782654845 |
144 | Y>C | No |
ClinGen ExAC |
|
|
rs782312786 CA10543476 |
146 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA337164328 rs898928431 |
149 | K>E | No |
ClinGen gnomAD |
|
|
rs898928431 CA415036929 |
149 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 150 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415036993 rs868980582 |
152 | F>L | No |
ClinGen TOPMed |
|
|
rs782202426 CA10543479 |
153 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA415037054 rs868977940 |
155 | D>N | No |
ClinGen Ensembl |
|
|
rs1556819337 CA415037076 |
156 | V>A | No |
ClinGen gnomAD |
|
|
CA415037241 rs1471208213 |
160 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs782042263 CA10543481 |
161 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10543482 rs782155034 |
161 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001092170 rs1556819349 |
163 | F>missing | No |
ClinVar dbSNP |
|
|
CA337164345 rs993206839 |
165 | L>P | No |
ClinGen Ensembl |
|
|
CA10543485 rs781935399 |
170 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10543488 rs782331121 |
172 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10543487 rs782073807 |
172 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 176 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA337164380 rs887265975 |
176 | R>G | No |
ClinGen Ensembl |
|
|
rs782274510 CA10543489 |
176 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10543500 rs782585629 |
177 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10543501 rs782296530 |
179 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10543502 rs782410755 |
181 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA415039830 rs1556819708 |
182 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 188 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782227360 CA10543504 |
191 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1225444776 CA415040437 |
192 | M>T | No |
ClinGen TOPMed |
|
|
CA10543505 rs377270305 |
192 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415040688 rs1556819719 |
196 | A>S | No |
ClinGen gnomAD |
|
|
rs367750920 CA337165212 |
201 | V>A | No |
ClinGen ESP |
|
|
CA415041240 rs1479573905 |
207 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA415041296 rs1556819815 |
208 | V>D | No |
ClinGen gnomAD |
|
|
rs1602823763 CA415041304 |
209 | E>K | No |
ClinGen Ensembl |
|
|
CA337165486 rs369433420 |
211 | I>T | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 214 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 214 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs980746418 CA337165490 |
215 | W>* | No |
ClinGen TOPMed |
|
|
CA10543527 rs782104211 |
219 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1556819822 CA415041779 |
220 | N>S | No |
ClinGen gnomAD |
|
|
CA415041804 rs1556819829 |
221 | A>T | No |
ClinGen gnomAD |
|
|
CA415041933 rs1556819834 |
223 | H>Q | No |
ClinGen gnomAD |
|
|
CA415041945 rs1556819837 |
224 | M>V | No |
ClinGen gnomAD |
|
|
CA10543528 rs782345111 |
229 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10543531 rs202047956 |
238 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10543532 rs781893243 |
239 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA415042458 rs1556819850 |
240 | I>T | No |
ClinGen gnomAD |
|
|
CA10543534 rs782755056 |
241 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 241 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 244 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415042866 rs1366440737 |
249 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA337165549 rs930626279 |
250 | G>S | No |
ClinGen TOPMed |
|
|
rs1556819970 CA415043146 |
253 | I>L | No |
ClinGen gnomAD |
|
|
CA10543552 rs376267415 |
254 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782159275 CA10543553 |
254 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782343829 CA337165944 |
255 | L>P | No |
ClinGen TOPMed |
|
|
rs782793239 CA10543554 |
256 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA10543555 rs781870098 |
257 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415043405 rs1556819976 |
260 | Q>K | No |
ClinGen gnomAD |
|
|
rs782758780 CA10543557 |
261 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA10543559 rs782465882 |
262 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA10543561 rs782302230 |
266 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs782544765 CA10543562 |
269 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415043715 rs782544765 |
269 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10543564 rs782249015 |
274 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1264883169 CA415043845 |
274 | W>R | No |
ClinGen TOPMed |
|
|
CA415043901 rs1556819995 |
276 | T>S | No |
ClinGen gnomAD |
|
|
rs1556820000 CA415043912 |
277 | V>I | No |
ClinGen gnomAD |
|
|
rs781936288 CA10543566 |
279 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA415044035 rs1190087851 |
282 | T>N | No |
ClinGen TOPMed |
|
|
rs781966316 CA10543568 |
284 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs782019560 CA10543569 |
285 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782134457 CA415044147 |
286 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs782134457 CA10543570 |
286 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA415044174 rs1556820014 |
288 | W>R | No |
ClinGen gnomAD |
|
|
rs782758625 CA10543571 |
293 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415044401 rs1569453848 |
296 | A>G | No |
ClinGen Ensembl |
|
|
CA415044430 rs868953561 |
298 | V>M | No |
ClinGen Ensembl |
|
|
CA10543573 rs782084939 |
300 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs782445758 CA10543586 |
305 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415044769 rs1556820202 |
306 | L>R | No |
ClinGen gnomAD |
|
|
CA415044832 rs1413190455 |
310 | T>I | No |
ClinGen TOPMed |
|
|
rs1556820203 CA415044836 |
311 | I>V | No |
ClinGen gnomAD |
|
|
rs782268436 CA10543588 |
312 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs376489228 CA337166510 |
316 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs1556820211 CA415045057 |
317 | D>N | No |
ClinGen gnomAD |
|
|
rs1556820216 CA415045152 |
320 | P>R | No |
ClinGen gnomAD |
|
|
CA10543589 rs782392033 |
320 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10543590 rs781989212 |
321 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1556820222 CA415045216 |
323 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1556820226 CA415045235 |
324 | C>Y | No |
ClinGen gnomAD |
|
|
CA10543592 rs782343427 |
327 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10543593 rs781940886 |
328 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs371012668 CA10543594 |
330 | I>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10543595 rs371012668 |
330 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10543597 rs782136907 |
331 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782022488 CA10543596 |
331 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA10543599 rs781848007 |
334 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246156427 CA415045503 |
337 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA415045547 rs1556820243 |
340 | F>C | No |
ClinGen gnomAD |
|
|
rs1465139660 CA415045580 |
343 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA337166581 rs74350629 |
345 | E>K | No |
ClinGen Ensembl |
|
|
CA337166584 rs913826191 |
349 | I>V | No |
ClinGen Ensembl |
|
|
rs1286098600 CA415045687 |
351 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 353 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10543601 rs782695736 |
356 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA415045759 rs1343935503 |
356 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs781897245 CA10543603 |
358 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782057587 CA10543604 |
359 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373794425 CA10543605 |
360 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA337166594 rs949309487 |
363 | R>K | No |
ClinGen Ensembl |
|
|
rs367579214 CA10543607 |
364 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10543608 rs782486010 |
364 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415045894 rs76177030 |
368 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs76177030 CA415045892 |
368 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs142261040 CA10543611 |
369 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 369 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10543612 rs782675594 |
369 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1320770604 CA415045930 |
371 | V>I | No |
ClinGen TOPMed |
|
|
CA415045970 rs1412971894 |
374 | R>H | Variant assessed as Somatic; 6.352e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs146427374 CA10543613 |
376 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10543614 rs147876428 |
376 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1556820284 CA415046024 |
379 | Q>E | No |
ClinGen gnomAD |
|
|
CA415046061 rs868957830 |
383 | G>E | No |
ClinGen Ensembl |
|
|
CA415046065 rs1556820292 |
384 | N>D | No |
ClinGen gnomAD |
|
|
CA10543615 rs781994330 |
385 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs781904427 CA10543627 |
390 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA337167088 rs970585130 |
392 | V>A | No |
ClinGen Ensembl |
|
|
CA10543628 CA10543629 rs781850425 |
392 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415047991 rs781850425 |
392 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 393 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868995544 CA415048008 |
393 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA415048213 rs1206144733 |
397 | S>I | No |
ClinGen TOPMed |
|
|
rs1033610208 CA337167122 |
398 | S>Y | No |
ClinGen Ensembl |
|
|
rs376533105 CA10543632 |
399 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10543633 rs782176060 |
401 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415048455 rs1210470171 |
404 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1556820428 CA415048534 |
406 | A>D | No |
ClinGen gnomAD |
|
|
CA415048543 rs1556820429 |
407 | P>T | No |
ClinGen gnomAD |
|
|
rs782013942 CA10543636 |
408 | L>V | No |
ClinGen ExAC TOPMed |
|
| rs1569454161 | 408 | L>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415048706 rs1556820433 |
411 | P>A | No |
ClinGen gnomAD |
|
|
CA10543637 rs782128839 |
411 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA415048711 rs782128839 |
411 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs374632460 CA10543639 |
414 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782079877 CA10543640 |
415 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1295996924 CA415048896 |
416 | S>C | No |
ClinGen TOPMed |
|
|
CA10543643 rs782168254 |
418 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782799189 CA10543644 |
419 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10543645 rs141690321 |
422 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782510679 CA10543646 |
424 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 424 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868960650 CA415049197 |
425 | Q>R | No |
ClinGen Ensembl |
|
|
rs782741890 CA10543647 |
428 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 429 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415049284 rs1556820447 |
429 | S>L | No |
ClinGen gnomAD |
|
|
rs933495335 CA337167239 |
431 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA415049390 rs1376739920 |
434 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1556820455 CA415049464 |
436 | T>I | No |
ClinGen gnomAD |
|
|
rs143687531 CA337167251 |
440 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1194561425 CA415049675 |
441 | Q>H | No |
ClinGen TOPMed |
|
|
rs200635320 CA10543648 |
441 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA337167256 rs889394845 |
442 | A>P | No |
ClinGen Ensembl |
|
|
CA415049683 rs889394845 |
442 | A>S | No |
ClinGen Ensembl |
|
| TCGA novel | 443 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782272412 CA10543652 |
445 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs77878508 CA337167292 |
446 | T>I | No |
ClinGen Ensembl |
|
|
CA10543653 rs782513983 |
447 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA415049867 rs782513983 |
447 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs782630695 CA10543654 |
448 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs868914661 CA415049871 |
448 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs372512790 CA10543656 |
451 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10543657 rs782073292 |
452 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377031308 CA10543658 |
453 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782416882 CA10543659 |
454 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338630523 CA415050104 |
456 | T>I | No |
ClinGen TOPMed |
|
|
CA337167370 rs77796656 |
459 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs77796656 CA10543661 |
459 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs199649217 CA337167406 |
461 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA415050239 rs1251775846 |
461 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA415050270 rs1311824003 |
462 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA415050309 rs1556820485 |
464 | Y>S | No |
ClinGen gnomAD |
|
|
CA10543663 rs138966264 |
467 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1357029655 CA415050401 |
467 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1305610914 CA415050482 |
470 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA415050479 rs1305610914 |
470 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10543664 rs782426371 |
474 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781991760 CA10543665 |
475 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781895777 CA10543666 |
477 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337167427 VAR_030762 RCV000948176 rs3810651 |
478 | I>F | No |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA415050712 rs3810651 |
478 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA337167436 rs782106906 |
478 | I>N | No |
ClinGen Ensembl |
|
|
rs3810651 CA415050715 |
478 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781853975 CA10543669 |
481 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10543668 rs782766146 |
481 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10543670 rs782062554 |
483 | R>C | Variant assessed as Somatic; 6.246e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA10543671 rs368659256 |
483 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415050863 rs782062554 |
483 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA415050918 rs1556820510 |
484 | N>I | No |
ClinGen gnomAD |
|
|
rs782431029 CA10543673 |
485 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs142223987 CA10543675 |
485 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10543674 rs142223987 |
485 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10543676 rs782397568 |
486 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA415050973 rs1556820516 |
487 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10543682 rs782057430 |
490 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781947829 CA10543681 |
490 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782396610 CA10543683 |
491 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs961027252 CA337167530 |
492 | G>R | No |
ClinGen TOPMed |
|
|
rs961027252 CA415051104 |
492 | G>S | No |
ClinGen TOPMed |
|
|
rs1556820534 CA415051261 |
497 | H>R | No |
ClinGen gnomAD |
|
|
CA415051269 rs1325609604 |
498 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10543686 rs782742963 |
500 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415051374 rs782742963 |
500 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781816211 CA415051391 |
501 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781816211 CA10543687 |
501 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364443149 CA415051404 |
502 | E>K | No |
ClinGen TOPMed |
|
|
CA10543688 rs782065026 |
502 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556820549 CA415051486 |
505 | S>R | No |
ClinGen gnomAD |
|
|
CA10543689 rs201961702 |
506 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs141643196 CA10543691 |
507 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782642096 CA415051653 |
509 | R>C | No |
ClinGen ExAC |
|
|
rs782699208 CA337167577 |
509 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782642096 CA10543692 |
509 | R>S | No |
ClinGen ExAC |
|
|
rs781858777 CA10543693 |
510 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1602827768 CA415051763 |
511 | G>D | No |
ClinGen Ensembl |
|
|
CA337167580 rs78574841 |
511 | G>S | No |
ClinGen Ensembl |
|
|
CA10543694 rs782482555 |
512 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA337167587 rs943648990 |
514 | P>S | No |
ClinGen TOPMed |
|
|
rs1053962241 CA337167603 |
517 | K>N | No |
ClinGen Ensembl |
|
|
rs1556820562 CA415052054 |
519 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10543697 rs77578954 |
523 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782248718 CA10543699 |
524 | E>K | No |
ClinGen ExAC |
|
|
rs1569454309 CA415052321 |
525 | K>Q | No |
ClinGen Ensembl |
|
|
CA337167643 rs782374203 |
526 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782374203 CA10543700 |
526 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs781960566 CA10543701 |
527 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415052460 rs781960566 |
527 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782078871 CA10543702 |
529 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs782323102 CA10543703 |
532 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs781921957 CA10543704 |
533 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs372911195 CA10543705 |
537 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375021463 CA10543706 |
538 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs945406040 CA337167728 |
539 | D>N | No |
ClinGen Ensembl |
|
|
RCV001174652 rs1931070303 |
540 | K>missing | No |
ClinVar dbSNP |
|
|
CA10543707 rs781807299 |
542 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782113858 CA10543708 |
544 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA415053260 rs1556820589 |
545 | A>T | No |
ClinGen gnomAD |
|
|
rs782763163 CA10543709 |
545 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA415053372 rs1319041786 |
548 | E>D | No |
ClinGen TOPMed |
|
|
rs1556820593 CA415053390 |
549 | Q>H | No |
ClinGen gnomAD |
|
|
CA415053424 rs1556820595 |
551 | K>* | No |
ClinGen gnomAD |
|
|
rs781905125 CA10543710 |
551 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA415053471 rs1400317425 |
552 | C>F | No |
ClinGen TOPMed |
|
|
CA10543711 rs782461529 |
552 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs369153293 CA10543712 |
554 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415053539 rs1569454336 |
555 | N>D | No |
ClinGen Ensembl |
|
|
CA337167799 rs1033546433 |
555 | N>S | No |
ClinGen Ensembl |
|
|
CA415053660 rs1477052275 |
557 | T>I | No |
ClinGen TOPMed |
|
|
CA415053728 rs1394568125 |
560 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA415053787 rs1556820609 |
561 | N>I | No |
ClinGen gnomAD |
|
|
CA415053803 rs1556820611 |
562 | D>A | No |
ClinGen gnomAD |
|
|
CA10543715 rs782625312 |
564 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556820620 CA415053915 |
565 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782780265 CA337167822 |
565 | L>P | No |
ClinGen gnomAD |
|
|
CA415053979 rs1245947122 |
567 | A>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 567 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556820626 CA415054007 |
568 | H>R | No |
ClinGen gnomAD |
|
|
rs781895624 CA337167845 |
570 | Q>* | No |
ClinGen Ensembl |
|
|
rs894962281 CA415054247 |
574 | S>I | No |
ClinGen gnomAD |
|
|
rs894962281 CA337167847 |
574 | S>T | No |
ClinGen gnomAD |
|
|
CA415054340 rs1602828105 |
577 | E>G | No |
ClinGen Ensembl |
|
|
rs782332486 CA10543718 |
580 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1556820632 CA415054452 |
580 | D>Y | No |
ClinGen gnomAD |
|
|
rs782112494 CA415054566 |
582 | C>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1214874289 CA415054536 |
582 | C>S | No |
ClinGen TOPMed |
|
|
rs782112494 CA10543719 |
582 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782172939 CA10543720 |
583 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10543722 rs782419335 |
584 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782419335 CA10543721 |
584 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415054670 rs1556820643 |
585 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 585 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415054736 rs1556820645 |
587 | G>R | No |
ClinGen gnomAD |
|
|
CA10543724 rs782375829 |
589 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA415054881 rs1198396017 |
590 | F>C | No |
ClinGen TOPMed |
|
|
rs781968714 CA10543725 |
591 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs782084953 CA10543726 |
592 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA415054978 rs1346447823 |
593 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs782711764 CA10543727 CA415055059 TCGA novel rs1235662467 |
594 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD ExAC |
|
CA415055077 rs1373890962 |
595 | S>C | No |
ClinGen TOPMed |
|
|
CA415055123 rs781924797 |
596 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782775984 CA10543729 |
597 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10543730 rs782775984 |
597 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10543731 rs781849340 |
598 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 603 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10543733 rs782740545 |
604 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415055492 rs1556820667 |
605 | P>T | No |
ClinGen gnomAD |
|
|
rs1556820669 CA415055554 |
606 | K>E | No |
ClinGen gnomAD |
|
|
CA10543734 rs781804359 |
607 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs782673532 CA10543736 |
608 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10543738 rs782520456 |
610 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1374917323 CA415055880 |
611 | S>P | No |
ClinGen TOPMed |
|
|
rs1436485799 CA415055897 |
612 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs782535216 CA337168020 |
612 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 616 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415056139 rs1556820681 |
620 | G>E | No |
ClinGen gnomAD |
|
|
rs781814944 CA10543739 |
621 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1556820685 CA415056242 |
624 | I>T | No |
ClinGen gnomAD |
|
|
CA415056215 rs1475592457 |
624 | I>V | No |
ClinGen TOPMed |
|
|
CA415056265 rs1556820693 |
625 | V>D | No |
ClinGen gnomAD |
|
|
rs782233354 CA10543740 |
626 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10543741 rs76984204 |
627 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415056361 rs1556820699 |
629 | Y>N | No |
ClinGen gnomAD |
|
|
CA415056412 rs1556820701 |
630 | H>R | No |
ClinGen gnomAD |
|
|
rs1556820702 CA415056436 |
631 | M>I | No |
ClinGen gnomAD |
No associated diseases with Q9UN88
3 regional properties for Q9UN88
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| chloride channel complex | An ion channel complex through which chloride ions pass. |
| GABA-A receptor complex | A protein complex which is capable of GABA-A receptor activity. In human, it is usually composed of either two alpha, two beta and one gamma chain of the GABA-A receptor subunits or 5 chains of the GABA-A receptor subunits rho1-3 (formally known as GABA-C receptor). |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynaptic membrane | A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. |
| receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| chloride channel activity | Enables the facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| excitatory extracellular ligand-gated ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts, where channel opening contributes to an increase in membrane potential. |
| GABA-A receptor activity | Combining with the amino acid gamma-aminobutyric acid (GABA, 4-aminobutyrate) to initiate a change in cell activity. GABA-A receptors function as chloride channels. |
| neurotransmitter receptor activity | Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity. |
| neurotransmitter transmembrane transporter activity | Enables the directed movement of a neurotransmitter into, out of or within a cell, or between cells. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. |
| transmembrane signaling receptor activity | Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. |
| transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential | Any transmitter-gated ion channel activity that is involved in regulation of postsynaptic membrane potential. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| chloride transmembrane transport | The process in which chloride is transported across a membrane. |
| ion transmembrane transport | A process in which an ion is transported across a membrane. |
| nervous system process | A organ system process carried out by any of the organs or tissues of neurological system. |
| regulation of membrane potential | Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O14764 | GABRD | Gamma-aminobutyric acid receptor subunit delta | Homo sapiens (Human) | PR |
| P14867 | GABRA1 | Gamma-aminobutyric acid receptor subunit alpha-1 | Homo sapiens (Human) | PR |
| P11230 | CHRNB1 | Acetylcholine receptor subunit beta | Homo sapiens (Human) | PR |
| Q15825 | CHRNA6 | Neuronal acetylcholine receptor subunit alpha-6 | Homo sapiens (Human) | PR |
| Q05901 | CHRNB3 | Neuronal acetylcholine receptor subunit beta-3 | Homo sapiens (Human) | PR |
| P30532 | CHRNA5 | Neuronal acetylcholine receptor subunit alpha-5 | Homo sapiens (Human) | PR |
| P32297 | CHRNA3 | Neuronal acetylcholine receptor subunit alpha-3 | Homo sapiens (Human) | PR |
| P48167 | GLRB | Glycine receptor subunit beta | Homo sapiens (Human) | PR |
| P23415 | GLRA1 | Glycine receptor subunit alpha-1 | Homo sapiens (Human) | PR |
| O75311 | GLRA3 | Glycine receptor subunit alpha-3 | Homo sapiens (Human) | PR |
| P22933 | Gabrd | Gamma-aminobutyric acid receptor subunit delta | Mus musculus (Mouse) | PR |
| G5ECJ0 | exp-1 | Gamma-aminobutyric acid receptor exp-1 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGIRGMLRAA | VILLLIRTWL | AEGNYPSPIP | KFHFEFSSAV | PEVVLNLFNC | KNCANEAVVQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KILDRVLSRY | DVRLRPNFGG | APVPVRISIY | VTSIEQISEM | NMDYTITMFF | HQTWKDSRLA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YYETTLNLTL | DYRMHEKLWV | PDCYFLNSKD | AFVHDVTVEN | RVFQLHPDGT | VRYGIRLTTT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AACSLDLHKF | PMDKQACNLV | VESYGYTVED | IILFWDDNGN | AIHMTEELHI | PQFTFLGRTI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TSKEVYFYTG | SYIRLILKFQ | VQREVNSYLV | QVYWPTVLTT | ITSWISFWMN | YDSSAARVTI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GLTSMLILTT | IDSHLRDKLP | NISCIKAIDI | YILVCLFFVF | LSLLEYVYIN | YLFYSRGPRR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QPRRHRRPRR | VIARYRYQQV | VVGNVQDGLI | NVEDGVSSLP | ITPAQAPLAS | PESLGSLTST |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SEQAQLATSE | SLSPLTSLSG | QAPLATGESL | SDLPSTSEQA | RHSYGVRFNG | FQADDSIIPT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EIRNRVEAHG | HGVTHDHEDS | NESLSSDERH | GHGPSGKPML | HHGEKGVQEA | GWDLDDNNDK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SDCLAIKEQF | KCDTNSTWGL | NDDELMAHGQ | EKDSSSESED | SCPPSPGCSF | TEGFSFDLFN |
| 610 | 620 | 630 | |||
| PDYVPKVDKW | SRFLFPLAFG | LFNIVYWVYH | MY |