O14764
PR
Gene name |
GABRD |
Protein name |
Gamma-aminobutyric acid receptor subunit delta |
Names |
Death receptor 5, TNF-related apoptosis-inducing ligand receptor 2, TRAIL receptor 2, TRAIL-R2, GABA(A) receptor subunit delta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2563 |
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
371 variants for O14764
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000794295 rs759523853 CA534490 |
3 | A>S | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000634969 CA337953588 rs1207791272 |
5 | A>G | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001226514 CA337953872 rs1214046618 |
21 | G>S | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001042990 rs1658715532 |
22 | T>I | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA534508 RCV001308993 rs748341188 |
24 | A>V | Variant assessed as Somatic; 0.0 impact. Idiopathic generalized epilepsy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001056858 rs1441811312 |
46 | G>E | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1658879135 RCV001038612 |
46 | G>R | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001043915 CA534531 rs749214783 |
60 | G>R | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001297884 rs1658892135 |
68 | L>I | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3785098 RCV000555228 rs373508468 CA534605 |
88 | T>M | pancreas Idiopathic generalized epilepsy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1658901096 RCV001197457 |
113 | S>G | Epilepsy, idiopathic generalized, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA337957104 rs1373382584 RCV001349018 |
114 | R>C | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1658901832 RCV001069185 |
123 | D>N | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001299904 CA534626 rs562124721 COSM1207790 |
127 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system Idiopathic generalized epilepsy [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs201306411 CA534629 RCV000704317 |
131 | S>L | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1420010820 CA337957430 RCV001041519 |
136 | D>N | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001039371 rs1183821856 CA337957521 |
142 | K>R | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001226947 rs781431062 CA534640 |
150 | G>S | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA126275 rs121434580 RCV000017598 VAR_043151 |
177 | E>A | Generalized epilepsy with febrile seizures plus type 5 GEFSP5; reduced receptor current amplitudes [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs143115257 CA534721 RCV000696631 |
193 | V>I | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000518032 RCV000795688 rs779793371 CA534725 |
199 | S>N | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1557447332 CA337958551 RCV000690713 |
213 | Q>R | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001039122 rs1658982650 |
217 | T>S | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000635005 rs139300921 CA534734 VAR_043152 RCV001085270 |
220 | R>C | Idiopathic generalized epilepsy GEFSP5; unknown pathological significance; does not affect receptor current amplitudes [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA126276 RCV000022558 RCV000535201 VAR_043153 RCV000711732 rs41307846 RCV000017600 RCV000017599 |
220 | R>H | Epilepsy, idiopathic generalized, susceptibility to, 10 Generalized epilepsy with febrile seizures plus type 5 Epilepsy, juvenile myoclonic 7 Idiopathic generalized epilepsy is a risk factor for epilepsy; reduced receptor current amplitudes [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs369511458 RCV001040720 CA249373 RCV000203171 |
223 | T>M | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001261000 CA337958944 rs1484812847 |
238 | S>T | Epilepsy, idiopathic generalized, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1659011884 RCV001296308 |
240 | H>Y | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA337959010 RCV000550107 rs1248355743 |
243 | L>P | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000706126 CA534780 COSM3943236 rs150097692 RCV002534454 |
244 | R>W | ovary Idiopathic generalized epilepsy Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1201664324 RCV001350557 |
252 | I>missing | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000678793 rs148908731 RCV001245652 CA534789 RCV000224860 |
259 | V>I | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001301146 rs1659015905 |
273 | Q>H | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001342892 rs774201718 CA534840 COSM404646 |
312 | V>I | lung Variant assessed as Somatic; 0.0 impact. Idiopathic generalized epilepsy [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001235432 CA337960206 RCV002504324 rs1164930036 |
331 | A>G | Epilepsy, idiopathic generalized, susceptibility to, 10 Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA534848 RCV001352543 rs764783225 |
334 | N>S | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001218641 rs758908317 CA534850 |
335 | A>T | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1200416339 CA337960236 RCV000691290 |
336 | D>N | Variant assessed as Somatic; 0.0 impact. Idiopathic generalized epilepsy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs749316684 RCV000634967 CA337960287 |
343 | A>P | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001345368 rs1659031445 |
344 | K>M | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs768220667 RCV001295650 CA534902 |
354 | M>V | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1031482653 CA16891678 RCV000634971 |
355 | D>E | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1359928378 RCV001204446 |
363 | F>L | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16891695 RCV001315096 rs1020129541 |
367 | A>V | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001212258 rs759836961 CA534912 |
369 | G>C | Variant assessed as Somatic; 0.0 impact. Idiopathic generalized epilepsy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001208398 CA534910 rs759836961 RCV000517771 RCV000763778 |
369 | G>S | Epilepsy, idiopathic generalized, susceptibility to, 10 Variant assessed as Somatic; 0.0 impact. Idiopathic generalized epilepsy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000417018 RCV000556057 rs1057519556 VAR_078225 CA16044304 |
370 | V>I | Idiopathic generalized epilepsy found in a patient with childhood onset epileptic encephalopathy; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001215061 rs369490217 CA534920 |
379 | R>Q | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001281566 rs754636335 RCV000799958 CA534919 |
379 | R>W | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs773818258 RCV001300649 CA534923 |
381 | R>C | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA534931 rs764066786 COSM677366 RCV001065869 |
384 | P>L | lung Idiopathic generalized epilepsy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs79386457 RCV000529757 RCV001251987 CA534930 |
384 | P>S | Intellectual disability Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA534935 rs753657631 RCV000822275 |
385 | G>E | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA534941 RCV000518660 RCV001037213 rs372742962 |
389 | G>A | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000634966 CA337960672 rs1553123940 |
392 | R>G | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA337960700 CA534947 RCV001224429 rs763081509 |
395 | G>R | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
TCGA novel rs1571033517 CA337960741 RCV000805041 |
399 | G>R | Variant assessed as Somatic; impact. Idiopathic generalized epilepsy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV001050439 rs1351197180 |
400 | E>missing | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002483384 COSM1337504 CA534950 RCV000544951 rs116604393 |
401 | T>M | Epilepsy, idiopathic generalized, susceptibility to, 10 large_intestine Idiopathic generalized epilepsy [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000805251 CA337960764 rs116604393 |
401 | T>R | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000634985 CA534952 rs143031542 |
407 | A>T | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs200430448 RCV000690406 CA534953 RCV001507924 |
408 | R>C | Variant assessed as Somatic; 0.0 impact. Idiopathic generalized epilepsy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA16891953 RCV001298728 rs901937998 |
408 | R>H | Variant assessed as Somatic; 0.0 impact. Idiopathic generalized epilepsy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs370735082 RCV000815289 CA534957 |
416 | R>C | Variant assessed as Somatic; 0.0 impact. Idiopathic generalized epilepsy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001333565 rs1011029441 CA16891968 |
416 | R>H | Epilepsy, idiopathic generalized, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs145055222 RCV001262175 |
418 | R>P | Epilepsy, idiopathic generalized, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685193 rs200019257 CA534958 RCV002252214 |
418 | R>W | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA534962 RCV001337204 rs770260377 |
424 | A>T | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000802549 rs1002172902 CA16892064 |
432 | R>C | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1002172902 CA337961031 RCV001295357 |
432 | R>G | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000804196 rs866487320 CA16892142 |
440 | A>V | Variant assessed as Somatic; impact. Idiopathic generalized epilepsy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000685723 CA534976 rs756881793 |
442 | V>I | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001037185 rs1659053261 |
444 | V>I | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA534979 rs756592609 RCV001202550 |
448 | A>V | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1259235985 CA337953532 |
2 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA337953537 rs1259235985 |
2 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs759523853 CA337953549 |
3 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258077671 CA337953582 |
5 | A>T | No |
ClinGen gnomAD |
|
|
rs1285847139 CA337953651 |
10 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1164917987 CA337953830 |
18 | Q>H | No |
ClinGen TOPMed |
|
|
CA337953875 rs1214046618 |
21 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA337955116 rs748341188 |
24 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA534507 rs576499648 |
24 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs576499648 CA337955105 COSM901467 |
24 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs777986667 CA534510 |
25 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA337955205 rs1571027077 |
26 | N>K | No |
ClinGen Ensembl |
|
|
rs745866758 CA337955218 |
27 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA337955224 rs1233160486 |
28 | I>V | No |
ClinGen TOPMed |
|
|
rs775437460 CA534513 |
29 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16884747 rs74786356 |
30 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1295769740 CA337955324 |
32 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1239858715 CA337955343 |
33 | G>S | No |
ClinGen gnomAD |
|
|
CA337955405 rs1312519244 |
35 | N>D | No |
ClinGen Ensembl |
|
|
rs772707280 CA534519 |
36 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219337842 CA337955458 |
37 | E>D | No |
ClinGen gnomAD |
|
|
rs7416402 CA16884796 |
39 | S>P | No |
ClinGen Ensembl |
|
|
CA337955546 rs1444604935 |
42 | P>R | No |
ClinGen TOPMed |
|
|
CA337955563 rs760114023 |
43 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337955569 rs780379847 |
43 | N>K | No |
ClinGen gnomAD |
|
|
rs760114023 CA534520 |
43 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337955561 rs760114023 |
43 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 44 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766812063 CA534521 |
44 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1441811312 CA337955605 |
46 | G>A | No |
ClinGen gnomAD |
|
|
CA337955655 rs1270801941 |
50 | G>S | No |
ClinGen gnomAD |
|
|
rs758688035 CA534526 |
52 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA534528 rs747096398 |
53 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1194802055 COSM1637395 CA337955695 |
53 | R>H | bone [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
RCV000993888 CA534529 rs757310515 COSM3711215 |
56 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA337955737 rs1379512215 |
56 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA337955783 rs1355123538 |
59 | I>T | No |
ClinGen gnomAD |
|
|
CA337955776 rs1279735001 |
59 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 61 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1571027508 CA337955876 |
61 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 61 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1228013292 CA337955885 |
62 | P>A | No |
ClinGen gnomAD |
|
|
rs764518075 CA534564 |
62 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_079270 | 62 | P>S | No | UniProt | |
|
rs911958534 CA16885213 |
63 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA534567 rs767563484 |
64 | V>M | No |
ClinGen ExAC gnomAD |
|
| rs765094085 | 64 | V>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA534569 rs756091961 |
66 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1382541883 CA337955927 |
66 | V>L | No |
ClinGen gnomAD |
|
|
CA337956018 rs1198720650 |
74 | S>G | No |
ClinGen gnomAD |
|
|
rs752592606 CA16885232 |
75 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758230164 CA534572 |
76 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs554465815 CA534573 |
77 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA337956074 rs1418645786 |
78 | I>L | No |
ClinGen gnomAD |
|
|
CA534574 rs746705511 |
78 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA337956078 rs1418645786 |
78 | I>V | No |
ClinGen gnomAD |
|
|
CA16885257 rs976573230 |
79 | S>L | No |
ClinGen Ensembl |
|
|
CA534575 rs770620492 |
82 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA534576 rs780649573 |
83 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1399325636 CA337956745 |
87 | M>L | No |
ClinGen gnomAD |
|
|
rs1399325636 CA337956743 RCV000711729 |
87 | M>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA16885525 rs370931748 |
92 | H>Y | No |
ClinGen ESP |
|
|
CA16885527 rs897992927 |
95 | W>R | No |
ClinGen Ensembl |
|
|
CA534610 rs751411266 |
96 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751411266 CA337956874 |
96 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA534609 COSM1500150 rs751411266 |
96 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs886818332 CA16885529 |
96 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1234480091 CA337956910 |
98 | S>R | No |
ClinGen gnomAD |
|
|
CA534611 rs767191610 |
99 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA337956917 rs1316502661 |
99 | R>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 100 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA337956936 rs1207077637 |
102 | Y>C | No |
ClinGen gnomAD |
|
|
rs755819827 CA337956939 |
103 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs755819827 CA534613 |
103 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs779789979 CA534614 |
105 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1428299886 CA337956980 |
106 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 107 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1571027924 CA337957006 |
108 | T>P | No |
ClinGen Ensembl |
|
|
rs748573641 CA337957067 |
112 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748573641 CA534618 |
112 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA534620 rs773435504 |
114 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA534621 rs747299306 |
115 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA16885581 rs1007549925 |
116 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1415457341 CA337957208 |
120 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA534623 rs776785350 |
122 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA337957284 rs1557445506 |
126 | I>V | No |
ClinGen Ensembl |
|
|
CA534627 rs562124721 |
127 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 133 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361748741 CA337957394 |
133 | W>C | No |
ClinGen gnomAD |
|
|
CA16885725 rs988225589 |
134 | F>L | No |
ClinGen Ensembl |
|
|
rs1189990506 CA337957465 |
138 | T>K | No |
ClinGen TOPMed |
|
|
rs1189990506 CA337957470 |
138 | T>M | No |
ClinGen TOPMed |
|
|
rs1435494704 CA337957505 |
141 | N>I | No |
ClinGen gnomAD |
|
|
rs1343461932 CA337957534 |
143 | L>P | No |
ClinGen gnomAD |
|
|
rs559765850 CA534637 |
145 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA534636 rs376054712 |
145 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 150 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746064703 CA534641 |
151 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337957648 rs1334550218 |
155 | S>R | No |
ClinGen TOPMed |
|
|
CA16885833 rs949766842 |
156 | I>S | No |
ClinGen gnomAD |
|
|
CA337957663 rs1327063122 |
156 | I>V | No |
ClinGen gnomAD |
|
|
rs775423651 CA534643 |
157 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA534644 rs763019253 |
157 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA16888190 rs955512295 |
159 | T>I | No |
ClinGen gnomAD |
|
|
rs1557446811 CA337958002 |
159 | T>P | No |
ClinGen Ensembl |
|
|
CA337958004 rs1557446811 RCV000711731 |
159 | T>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs28753776 CA16888217 |
161 | T>S | No |
ClinGen Ensembl |
|
|
rs1190770956 CA337958025 |
163 | A>S | No |
ClinGen gnomAD |
|
|
COSM1686884 rs1477740666 CA337958038 |
165 | D>N | skin Variant assessed as Somatic; 4.665e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA337958057 rs1395682208 |
167 | D>N | No |
ClinGen TOPMed |
|
|
rs1390954505 CA337958063 |
168 | L>M | No |
ClinGen TOPMed |
|
|
CA337958070 rs1307816582 |
169 | A>G | No |
ClinGen TOPMed |
|
|
rs868720358 CA16888235 |
169 | A>T | No |
ClinGen Ensembl |
|
|
rs779124126 CA534684 |
173 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA534683 rs755161454 |
173 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA337958108 rs534661864 |
174 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA337958103 rs1329085916 |
174 | D>H | No |
ClinGen gnomAD |
|
|
CA337958121 rs1412374892 |
176 | Q>P | No |
ClinGen gnomAD |
|
|
CA337958145 rs1232405675 |
179 | M>V | No |
ClinGen TOPMed |
|
|
CA337958199 rs1226553038 |
184 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 185 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA534716 rs538535957 |
186 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA16889150 rs538535957 |
186 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1401174703 CA337958282 |
187 | Y>C | No |
ClinGen gnomAD |
|
|
rs1441225021 CA337958297 |
188 | S>* | No |
ClinGen TOPMed |
|
|
COSM1337480 rs759924857 CA534718 |
189 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs962486256 CA16889192 |
189 | S>P | No |
ClinGen Ensembl |
|
|
rs1443430853 CA337958314 |
190 | E>A | No |
ClinGen gnomAD |
|
|
rs765581066 CA534719 |
191 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16889230 rs766753329 |
192 | I>V | No |
ClinGen Ensembl |
|
|
rs1341366574 CA337958346 |
193 | V>A | No |
ClinGen TOPMed |
|
|
rs143115257 CA337958342 |
193 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1231315550 CA337958364 |
195 | Y>H | No |
ClinGen TOPMed |
|
|
CA16889268 rs750394202 |
197 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA534723 rs750394202 |
197 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA534726 rs749101408 |
200 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
rs768396581 CA534727 |
202 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA534729 rs747781422 |
205 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA337958488 rs1466292262 |
207 | D>E | No |
ClinGen gnomAD |
|
|
CA337958485 rs1179087736 |
207 | D>G | No |
ClinGen gnomAD |
|
|
CA337958586 rs1186381613 |
215 | T>N | No |
ClinGen TOPMed |
|
|
rs760037744 CA534732 |
217 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs146853417 CA534735 |
222 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA337958681 rs1389849476 |
222 | T>I | No |
ClinGen gnomAD |
|
|
CA534739 rs757232199 |
224 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs544834800 CA337958744 |
227 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA337958757 rs1337509537 |
228 | F>C | No |
ClinGen gnomAD |
|
|
rs1251068267 CA337958791 |
231 | A>T | No |
ClinGen gnomAD |
|
|
rs1349384790 CA337958913 |
235 | P>A | No |
ClinGen gnomAD |
|
|
CA337958924 rs1260063055 |
236 | R>Q | No |
ClinGen gnomAD |
|
|
rs1052045361 CA16890519 |
236 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA337958946 rs1484812847 |
238 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA337958988 rs1401634894 |
242 | H>Y | No |
ClinGen TOPMed |
|
|
CA534781 rs555313992 |
244 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397037731 CA337959048 |
247 | R>C | No |
ClinGen gnomAD |
|
|
rs1415095192 CA337959049 |
247 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 248 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343954780 CA337959058 |
248 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1345198805 CA337959082 |
250 | Y>H | No |
ClinGen TOPMed |
|
|
CA337959161 rs1300804136 |
256 | M>V | No |
ClinGen gnomAD |
|
|
CA16890609 rs868135638 |
258 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 259 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745389155 CA534791 |
263 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA337959283 rs1212117241 |
266 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
CA337959281 rs1212117241 |
266 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA337959290 rs1255139032 |
267 | V>I | No |
ClinGen gnomAD |
|
|
rs867856189 CA16890663 |
272 | S>I | No |
ClinGen Ensembl |
|
|
CA337959367 rs1405824159 |
273 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM3418549 CA534794 rs749733672 |
274 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1394297354 CA337959391 |
275 | A>S | No |
ClinGen gnomAD |
|
|
CA337959388 rs1394297354 |
275 | A>T | No |
ClinGen gnomAD |
|
|
CA16890671 rs868379771 |
275 | A>V | No |
ClinGen gnomAD |
|
|
rs1297149362 CA337959415 |
277 | P>L | No |
ClinGen gnomAD |
|
|
rs1436686874 CA337959410 |
277 | P>S | No |
ClinGen gnomAD |
|
|
rs772295324 CA534798 |
278 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1332195004 CA337959443 |
280 | V>L | No |
ClinGen TOPMed |
|
|
rs754466489 CA534829 |
286 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA534834 rs778104822 |
292 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1191526482 CA337959963 |
294 | M>T | No |
ClinGen gnomAD |
|
|
CA337959975 rs1366824512 |
296 | S>G | No |
ClinGen TOPMed |
|
|
rs1222492146 CA337959984 |
297 | A>S | No |
ClinGen gnomAD |
|
|
CA16891072 rs200391871 |
298 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA337959997 rs1302098541 |
299 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 301 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA534837 rs781426402 |
303 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA16891073 rs866215877 |
304 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 305 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA337960058 rs745961044 |
310 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200124298 CA337960069 |
311 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1248660340 CA337960063 |
311 | D>N | No |
ClinGen gnomAD |
|
|
rs948197538 CA16891112 |
316 | I>F | No |
ClinGen TOPMed |
|
|
CA534842 rs772061844 |
317 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1235518760 CA337960150 |
323 | A>T | No |
ClinGen gnomAD |
|
|
CA16891143 rs896016478 |
324 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1270464006 CA337960188 |
329 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs757601943 CA534853 |
338 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs746076615 CA534855 |
339 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA16891183 rs866697106 |
339 | K>M | No |
ClinGen Ensembl |
|
|
COSM901486 rs1413977400 CA337960263 |
339 | K>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1216856297 CA337960268 |
340 | K>R | No |
ClinGen TOPMed |
|
|
rs1457584169 CA337960272 |
341 | Q>K | No |
ClinGen gnomAD |
|
|
CA534856 rs756202555 |
342 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1392591761 CA337960284 |
342 | K>M | No |
ClinGen gnomAD |
|
|
CA534858 rs749316684 |
343 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs773238325 CA337960298 |
344 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746832451 CA534861 |
345 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs141082183 CA534862 |
347 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1448771133 CA337960319 |
348 | S>P | No |
ClinGen gnomAD |
|
|
rs1312828513 CA337960326 |
349 | R>K | No |
ClinGen gnomAD |
|
|
rs1378422825 CA337960332 |
350 | P>A | No |
ClinGen gnomAD |
|
|
CA534865 rs759215834 |
350 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA534864 rs759215834 |
350 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337960338 rs1487316206 |
351 | R>T | No |
ClinGen gnomAD |
|
|
rs570687659 CA534903 |
355 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761171989 CA534904 |
356 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337960389 rs1448706470 |
357 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA337960391 rs1448706470 |
357 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA337960402 rs1178920033 |
359 | A>T | No |
ClinGen TOPMed |
|
|
COSM3785099 rs1173956045 CA337960423 |
362 | L>F | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs142619552 COSM108123 CA16891687 |
364 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 365 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA337960454 rs1421770377 |
366 | S>F | No |
ClinGen TOPMed |
|
|
CA16891697 rs780249037 |
368 | A>V | No |
ClinGen Ensembl |
|
|
rs759836961 CA534911 |
369 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969607922 CA16891736 |
371 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA534915 rs750302215 |
371 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298511162 CA337960524 |
375 | A>T | No |
ClinGen gnomAD |
|
|
CA534917 rs779820111 |
375 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA337960555 rs1259972227 |
378 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs749014692 CA534918 |
378 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA337960558 rs749014692 |
378 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259972227 CA337960552 |
378 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA534921 rs369490217 |
379 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA534924 rs555017258 |
381 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1434291863 CA337960587 |
382 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA337960586 rs1434291863 |
382 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM1337501 rs771493470 CA534925 |
382 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs771493470 CA534926 |
382 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459168993 CA337960592 |
383 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA534932 rs764066786 |
384 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA534936 rs753657631 |
385 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766244912 CA534934 |
385 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA534937 rs778668096 |
386 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA534938 rs747734873 |
387 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1334498684 CA337960639 |
388 | M>I | No |
ClinGen gnomAD |
|
|
rs777148022 CA534940 |
388 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA337960647 rs372742962 |
389 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA534944 rs139832451 |
392 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA534945 rs201841854 |
393 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA337960701 rs763081509 |
395 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA337960715 rs1571033500 |
396 | V>G | No |
ClinGen Ensembl |
|
|
CA337960711 rs1404444503 |
396 | V>L | No |
ClinGen gnomAD |
|
|
CA337960727 rs1427137144 |
397 | E>D | No |
ClinGen TOPMed |
|
|
CA337960745 rs1399461348 |
399 | G>A | No |
ClinGen gnomAD |
|
|
rs1306828098 CA337960758 |
400 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 402 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs41309443 CA16891945 |
403 | K>T | No |
ClinGen TOPMed |
|
|
CA337960804 rs766337060 RCV000711728 |
405 | G>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs766337060 CA534951 |
405 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761813565 CA16891947 |
405 | G>R | No |
ClinGen Ensembl |
|
|
CA337960817 rs143031542 |
407 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA337960827 rs901937998 |
408 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA534955 rs200605909 |
410 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA534954 rs200605909 |
410 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA16891955 rs997941232 |
411 | G>A | No |
ClinGen Ensembl |
|
|
CA337960870 rs1482417419 |
413 | G>A | No |
ClinGen TOPMed |
|
|
rs757995846 CA534956 |
414 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA337960873 rs1484352803 |
414 | G>S | No |
ClinGen gnomAD |
|
|
CA16891970 rs145055222 |
418 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA337960931 rs1431621895 |
421 | P>L | No |
ClinGen gnomAD |
|
|
CA534961 rs746360582 |
423 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1380198645 CA337960960 |
425 | D>N | No |
ClinGen gnomAD |
|
|
CA534963 rs780285955 |
427 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA16892001 rs991579869 |
427 | I>V | No |
ClinGen Ensembl |
|
|
rs749606562 CA534965 |
428 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16892020 rs773639404 |
429 | I>V | No |
ClinGen gnomAD |
|
|
CA337961023 rs761923089 |
431 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM41015 rs761923089 CA534967 |
431 | A>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA16892070 rs971559651 |
432 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs971559651 CA337961035 |
432 | R>L | No |
ClinGen gnomAD |
|
|
CA337961030 rs1002172902 |
432 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA16892089 rs1035211628 COSM901488 |
433 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 436 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA337961077 rs1489037858 |
436 | P>L | No |
ClinGen gnomAD |
|
|
CA534970 rs140253583 |
436 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200862446 CA534971 |
437 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA337961095 rs1412637387 |
438 | A>V | No |
ClinGen gnomAD |
|
|
rs1359495553 CA337961105 |
439 | F>L | No |
ClinGen gnomAD |
|
|
CA337961142 rs143064203 |
443 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA534977 rs143064203 |
443 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1179436971 CA337961165 |
445 | I>M | No |
ClinGen TOPMed |
|
|
rs756592609 CA337961198 |
448 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868533837 CA337961205 |
449 | A>S | No |
ClinGen TOPMed |
|
|
rs868533837 CA16892188 |
449 | A>T | No |
ClinGen TOPMed |
|
|
CA16892192 COSM1337508 rs932283828 |
451 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs769035064 CA534982 |
452 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779157844 CA534983 |
453 | M>S | No |
ClinGen ExAC gnomAD |
3 associated diseases with O14764
[MIM: 613060]: Generalized epilepsy with febrile seizures plus 5 (GEFS+5)
A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO:0000269|PubMed:15115768}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 613060]: Epilepsy, idiopathic generalized 10 (EIG10)
A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 613060]: Juvenile myoclonic epilepsy 7 (EJM7)
A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO:0000269|PubMed:15115768}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
1 regional properties for O14764
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Claudin, conserved site | 48 - 63 | IPR017974 |
11 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. |
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| chloride channel complex | An ion channel complex through which chloride ions pass. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| 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). |
| GABA-ergic synapse | A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory. |
| 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. |
| integral component of postsynaptic membrane | The component of the postsynaptic 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. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| 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. |
5 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. |
| 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 |
|---|---|---|---|---|
| Q9UN88 | GABRQ | Gamma-aminobutyric acid receptor subunit theta | 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 |
| MDAPARLLAP | LLLLCAQQLR | GTRAMNDIGD | YVGSNLEISW | LPNLDGLIAG | YARNFRPGIG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GPPVNVALAL | EVASIDHISE | ANMEYTMTVF | LHQSWRDSRL | SYNHTNETLG | LDSRFVDKLW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LPDTFIVNAK | SAWFHDVTVE | NKLIRLQPDG | VILYSIRITS | TVACDMDLAK | YPMDEQECML |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DLESYGYSSE | DIVYYWSESQ | EHIHGLDKLQ | LAQFTITSYR | FTTELMNFKS | AGQFPRLSLH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FHLRRNRGVY | IIQSYMPSVL | LVAMSWVSFW | ISQAAVPARV | SLGITTVLTM | TTLMVSARSS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LPRASAIKAL | DVYFWICYVF | VFAALVEYAF | AHFNADYRKK | QKAKVKVSRP | RAEMDVRNAI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VLFSLSAAGV | TQELAISRRQ | RRVPGNLMGS | YRSVGVETGE | TKKEGAARSG | GQGGIRARLR |
| 430 | 440 | 450 | |||
| PIDADTIDIY | ARAVFPAAFA | AVNVIYWAAY | AM |