P14867
PR
Gene name |
GABRA1 |
Protein name |
Gamma-aminobutyric acid receptor subunit alpha-1 |
Names |
GABA(A) receptor subunit alpha-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2554 |
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
30 structures for P14867
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6CDU | X-ray | 345 A | PDB | ||
| 6D1S | X-ray | 320 A | PDB | ||
| 6D6T | EM | 380 A | PDB | ||
| 6D6U | EM | 380 A | PDB | ||
| 6HUG | EM | 310 A | A/D | 28-456 | PDB |
| 6HUJ | EM | 304 A | A/D | 1-456 | PDB |
| 6HUK | EM | 369 A | A/D | 1-456 | PDB |
| 6HUO | EM | 326 A | A/D | 1-456 | PDB |
| 6HUP | EM | 358 A | A/D | 1-456 | PDB |
| 6I53 | EM | 320 A | A/D | 1-456 | PDB |
| 6X3S | EM | 312 A | PDB | ||
| 6X3T | EM | 255 A | PDB | ||
| 6X3U | EM | 349 A | PDB | ||
| 6X3V | EM | 350 A | PDB | ||
| 6X3W | EM | 330 A | PDB | ||
| 6X3X | EM | 292 A | PDB | ||
| 6X3Z | EM | 323 A | PDB | ||
| 6X40 | EM | 286 A | PDB | ||
| 7PBD | EM | 304 A | PDB | ||
| 7PBZ | EM | 279 A | PDB | ||
| 7PC0 | EM | 300 A | PDB | ||
| 7QNE | EM | 270 A | A/D | 1-456 | PDB |
| 7T0W | EM | 300 A | PDB | ||
| 7T0Z | EM | 300 A | PDB | ||
| 8DD2 | EM | 290 A | B/D | 28-339 | PDB |
| 8DD3 | EM | 290 A | B/D | 28-339 | PDB |
| 8SGO | EM | 265 A | PDB | ||
| 8SI9 | EM | 298 A | PDB | ||
| 8SID | EM | 271 A | PDB | ||
| AF-P14867-F1 | Predicted | AlphaFoldDB |
329 variants for P14867
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs796052487 RCV000187491 CA314659 RCV001033996 |
4 | S>N | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs113886269 CA243192 RCV002433770 RCV000861856 RCV000187498 RCV001704843 |
9 | D>E | Idiopathic generalized epilepsy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs756553428 RCV000657882 RCV001349497 RCV002352069 CA3544313 |
20 | T>I | Idiopathic generalized epilepsy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000768228 CA131082509 rs866861998 |
27 | G>E | Epilepsy, idiopathic generalized, susceptibility to, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200218956 RCV001068548 CA314688 RCV002372147 RCV000585014 |
29 | P>L | Idiopathic generalized epilepsy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000724850 RCV000645390 CA245156 RCV002265661 rs143815396 |
29 | P>S | Idiopathic generalized epilepsy Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001434899 RCV001155795 CA3544341 rs747927213 |
31 | L>F | Epilepsy, idiopathic generalized, susceptibility to, 13 Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001390803 CA211941 rs769743354 RCV000209844 RCV000484867 |
32 | Q>* | Idiopathic generalized epilepsy Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs769743354 RCV000645389 CA3544342 RCV002317400 |
32 | Q>K | Idiopathic generalized epilepsy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000486713 CA16618154 RCV002526667 rs1064796448 |
59 | P>L | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1753807484 RCV001222933 |
64 | R>C | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001155797 rs1753807587 |
64 | R>H | Epilepsy, idiopathic generalized, susceptibility to, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322244 rs1753808798 |
73 | F>I | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA362178571 RCV001214002 rs1402107983 |
76 | S>G | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001855964 rs1561571575 RCV000767857 CA362178587 |
78 | G>R | Sensorineural hearing loss disorder Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs796052488 CA362178682 RCV000987626 |
90 | D>N | Juvenile myoclonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs796052488 TCGA novel RCV001034741 |
90 | D>Y | Variant assessed as Somatic; impact. Idiopathic generalized epilepsy [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1754197638 RCV001207394 |
99 | D>G | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000705072 VAR_071809 RCV000623344 RCV000114937 RCV000760281 CA151360 RCV000153292 rs587777308 |
112 | R>Q | Epilepsy, idiopathic generalized, susceptibility to, 13 Idiopathic generalized epilepsy Developmental and epileptic encephalopathy, 19 Inborn genetic diseases DEE19 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002259386 rs1754199170 RCV001218487 |
112 | R>W | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554085513 CA362178850 RCV000624127 |
113 | L>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1754201918 RCV001089752 |
136 | A>S | Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078222 | 146 | L>M | DEE19 [UniProt] | Yes | UniProt |
|
RCV000995773 RCV001869391 rs1376907797 CA362179086 |
147 | R>Q | Idiopathic generalized epilepsy Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000514914 rs139163545 RCV001504628 CA3544407 |
147 | R>W | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV003166890 rs1754206052 RCV001323658 |
158 | M>I | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554085822 RCV000536715 CA362179197 |
162 | V>G | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000705488 CA362179226 rs1437350481 |
166 | C>W | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1754314083 RCV001307638 |
178 | H>Q | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs765292293 RCV001229113 CA3544472 |
201 | E>G | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs777320447 RCV003132289 CA3544474 RCV001223123 |
204 | R>H | Idiopathic generalized epilepsy Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1754664241 RCV001235950 |
212 | G>R | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1754664529 RCV001231906 |
213 | S>L | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA362179557 rs1581207094 RCV000819373 |
213 | S>T | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002500957 CA10588397 RCV000255903 RCV000678794 RCV000817598 RCV003137868 rs727503940 |
214 | R>C | Epilepsy, idiopathic generalized, susceptibility to, 13 Variant assessed as Somatic; impact. Idiopathic generalized epilepsy Developmental and epileptic encephalopathy, 19 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs886039373 CA10588398 RCV000254956 RCV000525742 RCV000417089 |
214 | R>H | Idiopathic generalized epilepsy Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554086436 RCV001089902 |
215 | L>I | Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000550093 CA362179579 rs1554086437 |
217 | Q>K | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001313478 rs1754665353 |
218 | Y>S | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587777364 RCV000115031 VAR_071810 CA215005 |
219 | D>N | Epilepsy, idiopathic generalized, susceptibility to, 13 EIG13; the mutant protein is partially retained in the endoplasmic reticulum and has decreased expression at the plasma membrane; causes decreased current amplitude in response to GABA compared to wild-type and alters receptor gating kinetics including faster desensitization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001340680 rs748783999 CA3544480 |
226 | D>G | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_071811 RCV000114936 RCV002514572 rs587777307 CA151359 |
251 | G>S | Idiopathic generalized epilepsy Developmental and epileptic encephalopathy, 19 DEE19 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001261518 rs1755061747 |
255 | I>F | Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1755061866 RCV001224312 |
257 | T>I | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000454498 rs1060499553 CA16609707 |
263 | M>I | Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000685550 CA16602184 rs1561584736 |
263 | M>L | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003060019 CA314670 rs796052491 |
263 | M>T | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA362179901 RCV001004743 rs1561584736 |
263 | M>V | Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001222313 rs796052492 |
267 | L>F | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA314672 RCV000816542 RCV000187500 RCV000477826 rs796052492 COSM1065327 |
267 | L>I | Epilepsy, idiopathic generalized, susceptibility to, 13 Variant assessed as Somatic; impact. endometrium Idiopathic generalized epilepsy [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1755063375 RCV001810010 RCV001267028 |
270 | V>A | Developmental and epileptic encephalopathy, 19 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1755063970 RCV001064692 |
275 | N>K | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207242 rs1755063824 |
275 | N>S | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001319038 rs1755065243 |
284 | V>L | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA314674 RCV000187501 RCV001216490 rs796052493 |
287 | V>I | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000493269 RCV002063860 CA362180072 rs796052493 |
287 | V>L | Variant assessed as Somatic; impact. Developmental and epileptic encephalopathy, 19 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1755330256 RCV001236606 |
288 | T>I | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001058754 RCV001815497 rs189199636 |
289 | T>A | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000688675 rs1561587715 |
290 | V>missing | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs796052495 RCV001327289 |
294 | T>R | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001253629 rs796052496 CA314680 RCV001857613 RCV000187504 |
295 | T>I | Idiopathic generalized epilepsy Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1173578471 RCV001260771 |
296 | L>F | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1581220163 RCV000987627 CA362180149 |
299 | S>R | Juvenile myoclonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863225292 RCV000201943 CA279644 |
301 | R>K | Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1755333582 RCV001207963 |
305 | P>L | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_071812 CA151361 RCV000114938 rs587777309 |
306 | K>T | Developmental and epileptic encephalopathy, 19 DEE19 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000811493 rs1581220195 CA362180198 |
307 | V>A | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000522578 rs1554087620 CA362180204 RCV002298637 |
308 | A>D | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001260770 rs1755334003 |
308 | A>T | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001585744 RCV000811800 CA362180223 rs1581220210 |
311 | T>I | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1755335825 RCV001034500 |
317 | I>T | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001202431 rs1755336507 |
321 | Y>C | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA214959 RCV000017601 rs121434579 VAR_013642 |
322 | A>D | Epilepsy, idiopathic generalized, susceptibility to, 13 EJM5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000017602 rs1581220270 |
326 | S>missing | Epilepsy, childhood absence 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001283749 rs1755338662 |
332 | A>V | Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000798866 COSM1236648 rs1581220295 CA362180386 |
335 | N>I | autonomic_ganglia Idiopathic generalized epilepsy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001293028 rs1755339912 |
339 | K>E | Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001785706 rs1561587910 RCV000702983 CA362180423 |
340 | R>S | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001034050 RCV001772204 rs1755340949 |
349 | V>M | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000816896 rs749707253 CA362180574 |
357 | V>A | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001152027 rs80337021 RCV001615125 RCV001422354 CA3544577 |
360 | P>H | Epilepsy, idiopathic generalized, susceptibility to, 13 Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002318263 RCV001209670 rs775344663 CA3544579 |
369 | A>T | Idiopathic generalized epilepsy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002561041 rs1424508480 RCV001195782 |
370 | P>S | Idiopathic generalized epilepsy Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA362180671 RCV000692875 rs1424508480 |
370 | P>T | Variant assessed as Somatic; impact. Idiopathic generalized epilepsy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001256040 COSM1718923 RCV002321754 RCV000187507 RCV001852457 CA314686 rs751571034 |
377 | P>L | NS Idiopathic generalized epilepsy Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001303514 rs375377575 CA3544587 |
383 | D>N | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
COSM3410086 RCV001337971 rs755336024 CA131087920 |
384 | P>L | Variant assessed as Somatic; 0.0 impact. central_nervous_system Idiopathic generalized epilepsy [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs771316858 RCV001034370 CA3544590 RCV003132146 |
386 | L>V | Idiopathic generalized epilepsy Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1755408701 RCV001226014 |
387 | A>V | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002318202 rs1414103631 COSM1696688 CA362180824 |
394 | T>A | skin Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV001215328 rs1755409878 |
398 | K>E | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000234849 rs879253748 |
401 | K>missing | Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000850482 rs775157869 RCV000824853 RCV001213930 RCV000484562 CA3544595 |
403 | E>Q | Marfanoid habitus and intellectual disability Idiopathic generalized epilepsy Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3544596 RCV001342691 rs768389200 |
404 | T>R | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs139793542 RCV000468868 RCV000726914 CA3544600 |
409 | P>S | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000533379 rs1424659316 CA362180948 |
410 | K>E | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA131087924 rs376031361 RCV000595769 RCV001246645 |
410 | K>R | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001325329 RCV000519418 CA362180983 rs1229633395 |
412 | T>S | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA3544603 rs752803296 RCV001217805 |
415 | S>T | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs1490107518 RCV001327448 |
418 | K>R | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000985033 rs1581221893 CA362181134 |
423 | S>L | Developmental and epileptic encephalopathy, 19 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1755414752 RCV001300915 |
425 | I>T | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000413392 RCV001247171 rs1057518405 CA16042591 |
433 | I>V | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1312078830 RCV002379971 RCV001268321 CA362181302 |
438 | Y>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1755416915 RCV001246595 |
441 | T>H | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs145217327 RCV001152029 CA3544609 |
441 | T>M | Epilepsy, idiopathic generalized, susceptibility to, 13 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1554087843 RCV000645387 CA362181348 |
444 | N>K | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001034140 rs1755418006 |
446 | E>G | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000645388 rs1312439667 CA362181391 |
451 | A>T | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001237384 rs1755419468 |
452 | P>missing | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1755420544 RCV001063826 |
453 | T>I | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1755420995 RCV001305094 |
456 | Q>* | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA131082092 rs111452646 |
3 | K>R | No |
ClinGen Ensembl |
|
|
rs796052487 CA362180999 |
4 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs866369940 CA131082093 |
5 | P>S | No |
ClinGen Ensembl |
|
|
rs1214814997 CA362181024 |
6 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1484870497 CA362181032 |
7 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 8 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187284959 CA362181041 |
8 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA362181073 rs1217531305 |
10 | C>R | No |
ClinGen TOPMed |
|
|
CA362181079 rs1476709358 |
10 | C>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 11 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762939760 CA3544307 |
11 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349103677 CA362181114 |
13 | A>S | No |
ClinGen TOPMed |
|
|
rs774587445 CA3544309 |
14 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs759784427 CA3544310 |
15 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA3544311 rs767887700 |
16 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA131082095 rs779065852 |
18 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA362181223 rs1428599469 |
22 | T>N | No |
ClinGen gnomAD |
|
|
rs199819387 CA3544314 |
23 | G>A | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 24 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363320617 CA362181259 |
25 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs75423500 CA131082507 |
25 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA131082508 rs1011798545 |
26 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA362181462 rs143815396 |
29 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362181484 rs1172174788 |
33 | D>N | No |
ClinGen TOPMed |
|
|
rs1463015106 CA362181500 |
35 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA362181521 rs1167157957 |
37 | D>E | No |
ClinGen gnomAD |
|
|
CA362181523 rs1388733494 |
38 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA362181541 rs1329745637 |
40 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 40 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 44 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423806899 CA362181591 |
48 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 50 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3544343 rs745932197 |
51 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 51 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 56 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3544346 rs768778314 |
59 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 62 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000519916 CA362178488 rs1429109541 |
63 | E>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA362181687 RCV000503232 rs1554084012 |
63 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1349476131 CA362178498 |
65 | V>L | No |
ClinGen TOPMed |
|
|
COSM1696681 CA3544368 rs763403354 |
67 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs751050781 CA3544370 |
69 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA362178632 rs777649753 |
84 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362178630 rs1227075702 |
84 | D>G | No |
ClinGen gnomAD |
|
|
rs1189646450 CA362178654 |
86 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM232368 rs1189646450 CA362178655 |
86 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs146428720 CA3544392 |
89 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs796052488 RCV000187494 CA314664 |
90 | D>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM244636 CA362178713 rs1457242041 |
94 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM77748 rs1164973274 CA362178715 |
94 | R>H | ovary Variant assessed as Somatic; 0.0 impact. pancreas large_intestine urinary_tract [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 97 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA131084944 rs267600529 |
100 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 101 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781084915 CA3544397 |
102 | L>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 103 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 108 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3544398 rs552868295 |
110 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362178876 rs1275002571 |
117 | M>T | No |
ClinGen gnomAD |
|
|
rs1129648 CA131084948 |
122 | W>R | No |
ClinGen Ensembl |
|
| TCGA novel | 124 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 129 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265026103 CA362178964 |
129 | H>R | No |
ClinGen gnomAD |
|
|
CA131084949 rs146134200 |
129 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA3544401 rs749642686 |
131 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 137 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 138 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416596044 CA362179027 |
138 | N>S | No |
ClinGen gnomAD |
|
|
CA362179032 rs1403038122 |
139 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1163525530 CA362179034 |
139 | M>T | No |
ClinGen gnomAD |
|
|
CA362179031 rs1403038122 |
139 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3544403 rs199689997 |
140 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362179049 rs1235304350 |
141 | M>R | No |
ClinGen TOPMed |
|
|
rs746306844 CA3544404 |
142 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA362179088 rs1376907797 |
147 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA207963 rs797045590 RCV000194059 |
148 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs776482117 CA3544408 |
153 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 159 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1269683161 | 160 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs796052499 CA314691 RCV000187510 |
162 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs750728250 CA3544439 |
167 | P>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000998483 CA362179229 rs1581200203 |
167 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1554085824 CA314666 |
169 | H>R | No |
ClinGen Ensembl |
|
|
CA362179286 rs1581200244 |
175 | M>V | No |
ClinGen Ensembl |
|
|
CA3544440 rs780700439 COSM1065320 |
177 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 178 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 180 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276138067 CA362179332 |
181 | P>Q | No |
ClinGen TOPMed |
|
|
rs1388847957 CA362179389 |
187 | Y>F | No |
ClinGen gnomAD |
|
| TCGA novel | 188 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 188 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581207019 CA362179414 |
191 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 194 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3544471 rs761791288 |
195 | V>I | No |
ClinGen ExAC |
|
|
rs1405035017 CA362179455 |
197 | E>A | No |
ClinGen gnomAD |
|
|
CA3544473 rs773177131 |
201 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA362179493 rs1442004290 |
202 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 202 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 209 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362179546 rs1341650710 |
211 | D>A | No |
ClinGen gnomAD |
|
|
COSM449256 RCV000180187 rs727503940 CA203588 |
214 | R>S | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1554086436 CA314668 |
215 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 219 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755451924 CA3544475 |
220 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs753182955 CA3544477 |
222 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1481911303 CA362179632 |
225 | V>I | No |
ClinGen gnomAD |
|
|
rs1425559432 CA362179658 |
229 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA362179666 rs1189674696 |
230 | V>L | No |
ClinGen gnomAD |
|
|
rs1173993011 CA362179671 |
231 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 232 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362179678 rs1366844079 |
232 | S>T | No |
ClinGen gnomAD |
|
|
CA131086093 rs866779871 |
233 | S>G | No |
ClinGen Ensembl |
|
|
CA3544482 rs778581160 |
234 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 237 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362179755 rs1230801807 |
241 | T>S | No |
ClinGen gnomAD |
|
|
CA3544513 rs759786297 |
242 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 245 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209402238 CA362179815 COSM3827616 |
249 | K>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1064793933 COSM1696686 CA16618156 RCV000478430 |
251 | G>D | skin [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA3544515 rs775895535 |
252 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 258 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3544517 rs764645086 |
258 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA3544518 rs754406560 |
261 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs796052491 CA10602913 RCV000259298 |
263 | M>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 268 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 275 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000487812 CA16621831 rs1064797317 |
277 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1429197938 CA362180009 |
279 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 279 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000180531 rs794727962 CA248019 |
284 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| TCGA novel | 286 | G>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA131087771 rs189199636 |
289 | T>S | No |
ClinGen 1000Genomes |
|
|
RCV000187502 rs796052494 CA314676 |
290 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1291358550 CA362180110 |
293 | M>I | No |
ClinGen gnomAD |
|
|
rs796052495 CA314678 RCV000187503 |
294 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA362180116 rs796052495 |
294 | T>K | No |
ClinGen Ensembl |
|
|
CA3544552 rs532607986 |
296 | L>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs796052497 CA314682 RCV000187505 |
297 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 299 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs267600530 CA131087772 |
303 | S>F | No |
ClinGen Ensembl |
|
|
CA131087774 rs1030427837 |
310 | A>E | No |
ClinGen Ensembl |
|
| TCGA novel | 311 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1131691884 CA362180226 RCV000492952 |
312 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA16618157 rs1064795283 RCV000484242 |
314 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA3544553 rs747138999 |
315 | W>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000187506 CA314684 rs796052498 |
317 | I>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 320 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 320 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 324 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1064794681 RCV000485352 CA16618158 |
325 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA131087778 rs527416473 |
326 | S>P | No |
ClinGen 1000Genomes |
|
|
CA362180343 rs1286177898 |
329 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 330 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001171970 rs1755338529 |
331 | F>I | No |
ClinVar dbSNP |
|
| TCGA novel | 333 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362180407 rs1306024958 |
338 | T>S | No |
ClinGen gnomAD |
|
|
CA3544558 rs773775590 |
340 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 345 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381377821 CA362180478 |
348 | S>C | No |
ClinGen gnomAD |
|
|
CA362180505 rs1490082147 |
351 | P>L | No |
ClinGen gnomAD |
|
|
CA362180552 rs1186237529 |
354 | P>Q | No |
ClinGen gnomAD |
|
|
rs1465880198 CA362180551 |
354 | P>T | No |
ClinGen gnomAD |
|
|
CA362180559 rs1465067283 |
355 | K>R | No |
ClinGen Ensembl |
|
|
CA3544575 rs749707253 |
357 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771498937 CA362180598 |
360 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs80337021 CA362180602 |
360 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3544576 rs771498937 |
360 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 360 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362180608 rs1167040212 |
361 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 362 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469266875 CA362180639 |
365 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA362180642 rs1159843153 |
365 | N>S | No |
ClinGen gnomAD |
|
|
CA362180651 rs1389414642 |
366 | N>S | No |
ClinGen gnomAD |
|
|
rs896038141 CA131087915 |
367 | T>N | No |
ClinGen TOPMed |
|
|
rs771832995 CA362180665 |
368 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3544580 rs775344663 |
369 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs372570305 CA3544581 |
371 | T>I | No |
ClinGen ESP ExAC TOPMed |
|
|
rs370816784 CA131087916 |
374 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3544583 COSM84945 rs761617651 |
376 | T>N | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA362180725 rs1327280079 |
378 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1581221677 CA362180755 |
383 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 383 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755336024 CA3544588 |
384 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 384 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561588765 CA362180778 |
387 | A>S | No |
ClinGen Ensembl |
|
|
rs1480003835 CA362180804 |
391 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 392 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390518073 CA362180817 |
393 | A>T | No |
ClinGen TOPMed |
|
|
rs1309328956 CA362180833 |
395 | I>T | No |
ClinGen gnomAD |
|
|
rs1473605838 CA362180871 |
400 | V>A | No |
ClinGen gnomAD |
|
|
rs1384485524 CA362180878 |
401 | K>N | No |
ClinGen gnomAD |
|
|
rs745362654 CA3544592 |
401 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs745362654 CA362180875 |
401 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA131087921 rs976585513 |
402 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362180879 rs976585513 |
402 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM225223 rs775157869 CA3544594 |
403 | E>K | Variant assessed as Somatic; 0.0 impact. NS central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs765072998 CA3544599 |
407 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA131087923 rs999851922 |
408 | E>K | No |
ClinGen Ensembl |
|
|
CA3544601 rs139793542 |
409 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1490107518 CA362181069 |
418 | K>I | No |
ClinGen gnomAD |
|
| TCGA novel | 420 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756295089 CA362181103 |
421 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3544605 rs778103654 |
421 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 422 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 424 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001288614 CA3544608 rs778447396 |
428 | P>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA362181216 rs1561588928 |
429 | L>R | No |
ClinGen Ensembl |
|
|
rs937521901 CA131087928 |
436 | L>F | No |
ClinGen TOPMed |
|
|
rs1755416622 RCV001264659 |
439 | W>R | No |
ClinVar dbSNP |
|
| TCGA novel | 440 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372921536 CA362181327 |
442 | Y>H | No |
ClinGen gnomAD |
|
|
CA362181381 rs1390219469 |
449 | L>Q | No |
ClinGen gnomAD |
|
|
rs1340475350 CA362181385 |
450 | K>Q | No |
ClinGen gnomAD |
|
|
rs776405072 CA3544611 |
452 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs747892371 CA3544613 |
453 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3544612 rs747892371 |
453 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3544614 rs773012684 |
454 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1195117449 CA362181422 |
456 | Q>P | No |
ClinGen gnomAD |
No associated diseases with P14867
1 regional properties for P14867
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| active_site | Citrate synthase active site | 355 - 367 | IPR019810 |
Functions
13 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. |
| cytoplasmic vesicle membrane | The lipid bilayer surrounding a cytoplasmic vesicle. |
| dendrite membrane | The portion of the plasma membrane surrounding a dendrite. |
| GABA receptor complex | A protein complex which is capable of GABA receptor activity. Upon binding of gamma-aminobutyric acid (GABA) it transmits the signal from one side of the membrane to the other to initiate a change in cell activity. Major inhibitory receptor in vertebrate brain. Also found in other vertebrate tissues, invertebrates and possibly in plants. Effective benzodiazepine receptor. |
| 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. |
| 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. |
| postsynapse | The part of a synapse that is part of the post-synaptic cell. |
| 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. |
| 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. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| GABA-gated chloride ion channel activity | Enables the transmembrane transfer of a chloride ion by a channel that opens when GABA has been bound by the channel complex or one of its constituent parts. |
| inhibitory extracellular ligand-gated ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular inhibitory ligand has been bound by the channel complex or one of its constituent parts. Inhibitory ligands, such as GABA or glycine, open chloride-selective 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. |
10 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. |
| gamma-aminobutyric acid signaling pathway | The series of molecular signals generated by the binding of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms, to its receptor on the surface of a target cell. |
| inhibitory synapse assembly | The aggregation, arrangement and bonding together of a set of components to form an inhibitory synapse. |
| 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. |
| regulation of postsynaptic membrane potential | Any process that modulates the potential difference across a post-synaptic 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. |
| synaptic transmission, GABAergic | The vesicular release of gamma-aminobutyric acid (GABA). from a presynapse, across a chemical synapse, the subsequent activation of GABA 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. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P08219 | GABRA1 | Gamma-aminobutyric acid receptor subunit alpha-1 | Bos taurus (Bovine) | PR |
| P19150 | GABRA1 | Gamma-aminobutyric acid receptor subunit alpha-1 | Gallus gallus (Chicken) | PR |
| O14764 | GABRD | Gamma-aminobutyric acid receptor subunit delta | Homo sapiens (Human) | PR |
| Q9UN88 | GABRQ | Gamma-aminobutyric acid receptor subunit theta | 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 |
| P22723 | Gabrg2 | Gamma-aminobutyric acid receptor subunit gamma-2 | Mus musculus (Mouse) | PR |
| P62812 | Gabra1 | Gamma-aminobutyric acid receptor subunit alpha-1 | Mus musculus (Mouse) | PR |
| P62813 | Gabra1 | Gamma-aminobutyric acid receptor subunit alpha-1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRKSPGLSDC | LWAWILLLST | LTGRSYGQPS | LQDELKDNTT | VFTRILDRLL | DGYDNRLRPG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LGERVTEVKT | DIFVTSFGPV | SDHDMEYTID | VFFRQSWKDE | RLKFKGPMTV | LRLNNLMASK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IWTPDTFFHN | GKKSVAHNMT | MPNKLLRITE | DGTLLYTMRL | TVRAECPMHL | EDFPMDAHAC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PLKFGSYAYT | RAEVVYEWTR | EPARSVVVAE | DGSRLNQYDL | LGQTVDSGIV | QSSTGEYVVM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TTHFHLKRKI | GYFVIQTYLP | CIMTVILSQV | SFWLNRESVP | ARTVFGVTTV | LTMTTLSISA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RNSLPKVAYA | TAMDWFIAVC | YAFVFSALIE | FATVNYFTKR | GYAWDGKSVV | PEKPKKVKDP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LIKKNNTYAP | TATSYTPNLA | RGDPGLATIA | KSATIEPKEV | KPETKPPEPK | KTFNSVSKID |
| 430 | 440 | 450 | |||
| RLSRIAFPLL | FGIFNLVYWA | TYLNREPQLK | APTPHQ |