Q09470
PR
Gene name |
KCNA1 |
Protein name |
Potassium voltage-gated channel subfamily A member 1 |
Names |
Voltage-gated K(+) channel HuKI, Voltage-gated potassium channel HBK1, Voltage-gated potassium channel subunit Kv1.1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3736 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q09470
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q09470-F1 | Predicted | AlphaFoldDB |
369 variants for Q09470
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs776861490 RCV001217763 |
1 | M>L | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1947350138 RCV001241850 |
1 | M>R | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776861490 RCV001113418 |
1 | M>V | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs529968149 RCV001113419 CA6399328 |
7 | E>K | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1471834737 CA383453646 RCV000795415 |
10 | D>E | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs777276806 RCV001235151 CA6399333 |
15 | A>S | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
CA383453683 RCV001228030 rs1324506346 |
17 | G>R | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000560254 CA6399335 RCV003168608 rs367921276 RCV000415980 |
18 | H>P | Episodic ataxia type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000517963 CA6399336 rs201504073 RCV000639376 |
20 | Q>H | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000992234 CA6399337 rs747465523 RCV002550636 |
21 | D>N | Variant assessed as Somatic; 0.0 impact. Episodic ataxia type 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA383453730 RCV001221665 rs1224258529 |
24 | Y>H | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002481619 RCV000504366 rs373645838 CA6399339 |
26 | R>W | Variant assessed as Somatic; 0.0 impact. Episodic ataxia type 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
rs149959487 CA6399349 RCV000792773 RCV001289073 |
46 | L>M | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1512344 RCV001299600 rs752067203 CA6399354 RCV002541895 |
60 | N>S | lung Episodic ataxia type 1 Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1947351910 RCV001114819 |
71 | R>H | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs897263951 CA231855451 RCV001266289 RCV000560518 |
75 | P>H | Episodic ataxia type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA231855475 RCV001114820 rs962399769 |
92 | I>V | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1166033590 RCV001212684 CA383454225 |
97 | Q>K | Episodic ataxia type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001070533 rs1947352517 |
104 | R>S | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10642496 RCV000324825 rs886049510 RCV000379303 |
106 | V>A | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1591627522 CA383454338 RCV000819007 |
114 | S>F | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA383454382 rs1463513823 RCV001313298 |
121 | E>K | Episodic ataxia type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA383454405 RCV000529699 rs1555085687 |
124 | E>K | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10632955 RCV000282894 RCV000347271 rs886049511 |
138 | K>Q | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001220112 rs934102011 CA231855600 |
141 | E>K | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1947353699 RCV001109176 |
149 | Y>C | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1947353744 RCV001323018 |
151 | R>C | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6399392 rs764645312 RCV000712104 RCV001233194 |
159 | Y>H | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000014426 rs104894349 CA256876 VAR_001508 RCV001265691 |
174 | V>F | Episodic ataxia type 1 Inborn genetic diseases EA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001232347 rs104894349 |
174 | V>I | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA256881 RCV000014432 rs267607195 |
177 | I>N | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_001509 | 177 | I>R | EA1 [UniProt] | Yes | UniProt |
|
CA256878 RCV000014428 rs104894357 VAR_020830 |
184 | F>C | Episodic ataxia type 1 EA1; alters voltage dependence and kinetics of activation though not of C-type inactivation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000695125 CA383454826 rs1565433190 |
187 | E>K | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1947354740 RCV001061166 |
195 | D>E | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1207573200 CA383454915 RCV001036830 |
199 | T>M | Variant assessed as Somatic; 0.0 impact. Episodic ataxia type 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1411072418 RCV000639377 CA383454920 |
200 | G>A | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
VAR_020051 RCV000358778 RCV001088859 CA6399405 rs2229000 |
204 | R>H | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555085716 RCV000534163 |
209 | T>missing | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001294866 rs764561596 CA6399409 |
214 | S>F | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs762016621 RCV001316359 |
215 | N>I | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227873 CA383455038 rs1280516411 |
218 | T>R | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA6399414 RCV001303541 rs146948558 |
223 | I>V | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1947355480 RCV001347227 |
224 | V>L | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA341287 VAR_001510 RCV003221784 RCV000014430 rs104894354 |
226 | T>A | Episodic ataxia type 1 EA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000014437 rs28933383 VAR_037100 CA123138 |
226 | T>K | Myokymia 1 MK1; induces a reduced efflux of potassium ions during depolarization which results in increased muscle cell activity; coexpression studies of the mutant protein with the wild-type protein produces significantly reduced currents suggesting a severe effect of the mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_020831 COSM431247 CA341655 RCV000020219 rs28933383 |
226 | T>M | Episodic ataxia type 1 Variant assessed as Somatic; impact. breast EA1 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
VAR_037101 RCV001731285 RCV001785451 CA341290 RCV000014436 rs28933383 |
226 | T>R | Episodic ataxia type 1 Variant assessed as Somatic; impact. Episodic ataxia/myokymia syndrome EA1; yields currents with a largely reduced amplitude [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000014425 rs104894348 CA256875 VAR_001511 |
239 | R>S | Episodic ataxia type 1 EA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs28933381 RCV000441803 VAR_037102 CA123136 RCV000014433 |
242 | A>P | Myokymia 1 MK1; 10% reduction of mean peak current amplitudes compared to wil-dtype; mutant and wild-type expression together is consistent with a loss-of-function effect of the mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
VAR_037103 RCV000014434 rs28933382 CA123137 |
244 | P>H | Myokymia 1 MK1; does not affect channel activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000014427 CA256877 rs104894356 VAR_001512 |
249 | F>I | Episodic ataxia type 1 EA1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs113994120 RCV002718822 |
250 | F>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227795 rs1947356316 |
253 | I>F | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001238769 rs1947356316 |
253 | I>V | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000014438 rs121918067 VAR_072397 CA123139 |
255 | N>D | Myokymia 1 with hypomagnesemia MK1; strongly reduces the activity of homomeric channels with dominant negative effects on wild-type channels [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001049355 rs1947356506 |
265 | Y>C | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555085756 RCV000559038 |
290 | I>S | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs778463081 RCV001861968 RCV000712107 COSM282063 CA383455553 |
295 | R>H | Episodic ataxia type 1 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1315748120 RCV001240784 RCV001331075 |
296 | L>F | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555085761 CA383455619 RCV000517456 RCV001775128 |
305 | L>F | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1947357313 RCV001306801 |
306 | S>C | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1947357459 RCV001230891 |
311 | G>C | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1947357501 RCV001035616 |
312 | L>I | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001782976 RCV000489690 CA383455679 rs1085308020 |
314 | I>T | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000700644 rs1565433425 CA383455729 |
322 | S>R | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA256879 rs104894353 RCV000014429 VAR_020832 |
325 | E>D | Episodic ataxia type 1 EA1; results in non-functional homomeric channels; accelerates recovery from N-type inactivation due to interaction with KCNAB1; slows down N-type inactivation of heteromeric channels formed by KCNA1 and KCNA4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_020833 | 329 | L>I | EA1 [UniProt] | Yes | UniProt |
|
RCV001346621 rs1947357713 |
331 | F>C | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_020834 | 342 | S>I | EA1; phenotype without myokymia [UniProt] | Yes | UniProt |
|
RCV000522746 CA383456100 rs1555085786 RCV000709846 |
376 | G>R | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001070525 rs1947358468 |
384 | G>R | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA383456228 RCV000496443 rs1135401950 |
395 | A>S | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001570793 RCV000190768 rs797044929 CA204814 |
401 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1591627924 RCV000798472 CA383456271 |
403 | P>T | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs104894355 VAR_001513 CA256880 RCV000014431 RCV002509157 |
404 | V>I | Episodic ataxia type 1 Variant assessed as Somatic; impact. EA1; results in slower channel activation compared to wild-type; slows down N-type inactivation of heteromeric channels formed by KCNA1 and KCNA4 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001266903 rs1947358808 RCV002290674 |
405 | P>A | Episodic ataxia type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555085798 RCV000516981 CA383456286 VAR_078205 RCV001857907 |
405 | P>L | Episodic ataxia type 1 probable disease-associated variant found in a patient with neonatal onset epileptic encephalopathy [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA341286 rs104894352 VAR_001514 RCV000014424 |
408 | V>A | Episodic ataxia type 1 EA1; channels have voltage dependence similar to that of wild-type channels but with faster kinetics and increased C-type inactivation; accelerates recovery from N-type inactivation due to interaction with KCNAB1; slows down N-type inactivation of heteromeric channels formed by KCNA1 and KCNA4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000014435 CA341288 rs104894358 |
417 | R>* | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001202824 rs1947359738 |
442 | S>T | Episodic ataxia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000175555 RCV000710151 RCV001088211 CA241309 rs150849316 |
443 | R>G | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1481224137 RCV001861967 RCV002532927 CA383456574 RCV000712101 |
449 | M>T | Episodic ataxia type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002522229 CA10641544 rs886049512 RCV000355613 RCV000260786 |
455 | M>K | Episodic ataxia type 1 Hereditary episodic ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001321844 CA383456614 rs1173585397 |
455 | M>V | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001343292 CA6399499 rs767068909 |
461 | M>T | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1303950325 CA383456698 RCV000795802 |
466 | A>D | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001053938 rs150612442 CA6399508 |
472 | N>S | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000802460 CA6399511 rs372539672 RCV000712103 |
483 | Q>H | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA383456824 RCV000694631 rs1406153214 |
485 | C>* | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA383456818 RCV001221068 rs1470787858 |
485 | C>S | Episodic ataxia type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA6399323 rs762038042 |
2 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773128496 CA6399325 CA6399326 RCV000712099 |
4 | M>I | No |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
|
CA383453603 rs1358355196 |
4 | M>V | No |
ClinGen TOPMed |
|
|
rs962697658 CA231855278 |
6 | G>A | No |
ClinGen gnomAD |
|
|
rs962697658 CA383453617 |
6 | G>E | No |
ClinGen gnomAD |
|
|
COSM119670 rs754549386 CA231855270 |
6 | G>R | ovary [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1194152428 CA383453635 |
9 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1194152428 CA383453636 |
9 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6399329 rs759152813 |
10 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA383453650 rs1163240946 |
11 | E>A | No |
ClinGen gnomAD |
|
|
CA383453651 rs1163240946 |
11 | E>V | No |
ClinGen gnomAD |
|
|
rs1253210703 CA383453666 |
13 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 13 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752293178 CA6399331 |
14 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA231855305 COSM459476 rs543311674 |
15 | A>V | pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA |
|
rs1360223867 CA383453681 |
16 | P>L | Variant assessed as Somatic; 4.646e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1360223867 CA383453679 |
16 | P>Q | No |
ClinGen gnomAD |
|
| rs1565432905 | 16 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338230248 CA383453693 |
18 | H>Q | No |
ClinGen gnomAD |
|
|
CA383453705 rs1243401360 |
20 | Q>R | No |
ClinGen gnomAD |
|
|
rs1237801961 CA383453718 |
22 | G>D | No |
ClinGen gnomAD |
|
|
rs755064500 CA6399338 |
25 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383453742 TCGA novel rs373645838 |
26 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP ExAC gnomAD |
|
rs1043625587 CA231855329 |
27 | Q>R | No |
ClinGen Ensembl |
|
|
CA231855337 rs904488099 |
28 | A>V | No |
ClinGen Ensembl |
|
|
CA383453788 rs1353118362 |
32 | D>E | No |
ClinGen Ensembl |
|
|
rs773288048 CA6399342 |
33 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6399344 rs770814681 |
36 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA383453814 rs1385867628 |
36 | C>G | No |
ClinGen gnomAD |
|
|
CA6399343 rs749152092 |
36 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA383453828 rs1380141950 |
38 | R>C | No |
ClinGen gnomAD |
|
|
CA383453830 rs1454599912 |
38 | R>H | No |
ClinGen gnomAD |
|
|
CA6399346 rs759476808 |
40 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 47 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA231855415 rs891898566 |
47 | R>S | No |
ClinGen Ensembl |
|
| TCGA novel | 49 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383453896 rs1384353122 |
49 | E>Q | No |
ClinGen gnomAD |
|
|
rs1308404461 CA383453917 |
52 | L>I | No |
ClinGen gnomAD |
|
|
CA6399351 rs370288610 |
53 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1240945980 CA383453923 |
53 | K>Q | No |
ClinGen gnomAD |
|
|
CA383453927 rs1253981772 |
53 | K>R | No |
ClinGen gnomAD |
|
|
rs1200027756 CA383453933 |
54 | T>N | No |
ClinGen gnomAD |
|
|
rs1412320343 CA383453944 |
56 | A>E | No |
ClinGen TOPMed |
|
|
CA383453951 rs1591627438 |
57 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 60 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6399356 rs552253837 |
66 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383454015 rs1591627449 |
67 | K>R | No |
ClinGen Ensembl |
|
|
rs1220977526 CA383454033 |
70 | M>V | No |
ClinGen TOPMed |
|
|
CA383454044 rs1591627451 |
71 | R>S | No |
ClinGen Ensembl |
|
| TCGA novel | 76 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383454096 rs1312855741 |
78 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs998114173 CA231855452 |
79 | E>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 79 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383454123 rs1176706430 |
82 | F>C | No |
ClinGen gnomAD |
|
|
CA383454136 rs1007593832 |
84 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1591627475 CA383454140 |
84 | R>L | No |
ClinGen Ensembl |
|
|
CA231855460 rs1007593832 |
84 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383454144 rs1386750335 |
85 | N>T | No |
ClinGen TOPMed |
|
|
rs370669088 CA6399361 |
94 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA383454240 rs1223200683 |
99 | G>R | No |
ClinGen gnomAD |
|
|
rs1389942164 CA383454254 |
101 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 102 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA231855496 rs878882278 |
107 | N>S | No |
ClinGen Ensembl |
|
|
rs1481255492 CA383454300 |
109 | P>S | No |
ClinGen gnomAD |
|
|
rs1289420780 CA383454309 |
111 | D>N | No |
ClinGen TOPMed |
|
|
rs1265798670 CA383454322 |
112 | M>I | No |
ClinGen gnomAD |
|
|
rs776360582 CA6399367 |
112 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1224619978 TCGA novel CA383454332 |
113 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
rs1273625044 CA383454339 |
115 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6399369 rs764866873 |
116 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA231855519 rs201627497 |
117 | I>V | No |
ClinGen 1000Genomes |
|
|
CA6399371 rs755315825 |
118 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768113136 CA6399372 |
118 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1226314295 CA383454378 |
120 | Y>F | No |
ClinGen gnomAD |
|
|
CA383454388 rs1304503648 |
121 | E>D | No |
ClinGen TOPMed |
|
|
rs1463513823 CA383454383 |
121 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs958646499 CA231855547 |
127 | M>L | No |
ClinGen TOPMed |
|
|
rs958646499 CA231855552 |
127 | M>V | No |
ClinGen TOPMed |
|
|
rs1167052717 CA383454435 |
128 | E>G | No |
ClinGen TOPMed |
|
|
CA383454461 rs1198429123 |
132 | E>K | No |
ClinGen TOPMed |
|
|
CA383454485 rs1200292977 |
135 | G>S | No |
ClinGen TOPMed |
|
|
CA6399381 rs780062452 |
137 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383454500 rs1264181777 |
137 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
RCV000761814 CA383454512 rs1565433107 |
139 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs746862982 CA6399382 |
142 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1591627571 CA383454544 |
143 | P>R | No |
ClinGen Ensembl |
|
|
CA383454542 rs1192462176 |
143 | P>S | No |
ClinGen gnomAD |
|
|
rs568025967 CA383454547 |
144 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383454560 rs1425175027 |
146 | E>G | No |
ClinGen gnomAD |
|
|
rs772823472 CA6399387 |
146 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs942544508 CA231855624 |
148 | E>A | No |
ClinGen Ensembl |
|
|
CA6399389 rs767728993 |
149 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288483498 CA383454610 |
153 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 154 | W>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6399391 rs761149222 |
156 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA383454641 rs1359358525 |
158 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA231855641 rs1012333095 |
159 | Y>S | No |
ClinGen Ensembl |
|
|
rs754013861 CA6399393 |
161 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs754013861 CA383454662 |
161 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 163 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779302041 CA6399395 |
164 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6399394 rs757392128 |
164 | G>W | No |
ClinGen ExAC |
|
|
rs1179635654 CA383454693 RCV000516865 |
166 | A>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA383454694 rs1179635654 |
166 | A>S | No |
ClinGen gnomAD |
|
|
CA383454713 rs1165393723 |
169 | I>V | No |
ClinGen gnomAD |
|
|
RCV001093120 rs1947354204 |
170 | A>T | No |
ClinVar dbSNP |
|
|
rs779656199 CA6399398 |
172 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA383454749 rs1172417064 |
175 | M>L | No |
ClinGen TOPMed |
|
|
rs1433077411 CA383454751 |
175 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 175 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768541186 CA6399400 |
178 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA383454795 rs1464714743 |
182 | V>F | No |
ClinGen TOPMed |
|
|
CA383454800 rs1382106153 |
183 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 187 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6399401 rs781075600 |
188 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA383454839 rs1431772348 |
189 | L>I | No |
ClinGen TOPMed |
|
| TCGA novel | 191 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6399404 rs772878919 |
193 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1299482 CA383454871 rs1299794605 |
194 | D>N | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs267603503 CA231855691 |
197 | D>V | No |
ClinGen Ensembl |
|
|
rs1411072418 CA383454919 |
200 | G>D | No |
ClinGen TOPMed |
|
|
rs1179584499 CA383454923 |
201 | T>A | No |
ClinGen TOPMed |
|
|
rs1053557642 COSM292417 CA231855716 |
202 | V>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1185396833 CA383454936 |
203 | H>P | No |
ClinGen gnomAD |
|
|
rs1461354272 CA383454935 |
203 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs557677390 CA6399406 |
206 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1158938955 CA383454968 |
207 | N>K | No |
ClinGen gnomAD |
|
|
CA383454980 rs1565433235 |
209 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 210 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6399407 rs775789299 |
211 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6399408 rs761073190 |
213 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6399410 rs754350793 |
215 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs762016621 CA6399411 |
215 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA231855748 rs905998763 |
219 | D>N | No |
ClinGen Ensembl |
|
|
CA383455050 rs1217159263 |
220 | P>L | No |
ClinGen gnomAD |
|
|
rs906932631 CA231855756 |
221 | F>S | No |
ClinGen TOPMed |
|
|
CA383455073 rs766618582 |
223 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383455113 rs1336919405 |
230 | I>T | No |
ClinGen TOPMed |
|
|
rs1034011056 CA231855795 |
230 | I>V | No |
ClinGen TOPMed |
|
|
rs1450956303 CA383455119 |
231 | W>* | No |
ClinGen TOPMed |
|
|
CA383455137 rs1234459228 |
233 | S>C | No |
ClinGen gnomAD |
|
|
CA6399420 rs755621934 |
234 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428881435 CA6399421 |
237 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA383455166 rs1409849280 |
238 | V>L | No |
ClinGen TOPMed |
|
|
rs748830362 CA6399423 COSM940250 |
239 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1565433321 CA383455180 |
240 | F>L | No |
ClinGen Ensembl |
|
|
rs28933381 CA383455191 |
242 | A>S | No |
ClinGen gnomAD |
|
|
rs774035254 CA6399425 |
242 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs140659450 CA6399426 |
243 | C>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs28933382 CA383455205 |
244 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 246 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs71582856 CA231855845 |
247 | T>A | No |
ClinGen Ensembl |
|
|
CA383455226 rs1265751197 |
247 | T>R | No |
ClinGen gnomAD |
|
| TCGA novel | 252 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345762772 CA383455271 |
253 | I>S | No |
ClinGen gnomAD |
|
|
rs1224911562 CA383455279 |
254 | M>I | No |
ClinGen gnomAD |
|
|
rs1196348315 CA383455320 |
260 | V>L | No |
ClinGen gnomAD |
|
|
rs377163970 CA6399431 |
263 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000722602 rs1565433356 CA383455376 |
268 | T>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 271 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 272 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1201839515 CA383455413 |
274 | A>S | No |
ClinGen gnomAD |
|
|
rs1201839515 CA383455411 |
274 | A>T | No |
ClinGen gnomAD |
|
|
rs373047882 CA6399436 |
274 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 279 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000992235 rs1591627786 CA383455452 |
279 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs777660284 CA6399438 |
283 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1284149306 CA383455507 |
287 | S>C | No |
ClinGen TOPMed |
|
|
rs923149331 CA231855948 |
289 | A>T | No |
ClinGen TOPMed |
|
|
rs376413513 CA231855949 |
290 | I>V | No |
ClinGen ESP gnomAD |
|
|
rs1064796844 RCV000480540 CA16619546 |
291 | L>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA383455550 rs1366571577 |
295 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778463081 CA6399441 |
295 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 298 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA231855958 rs879016592 |
299 | V>F | No |
ClinGen Ensembl |
|
|
rs1591627824 CA383455577 |
299 | V>G | No |
ClinGen Ensembl |
|
|
rs555527499 CA6399443 |
303 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs77865785 CA6399444 |
306 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs911314995 CA231855979 |
307 | R>C | No |
ClinGen TOPMed |
|
|
rs1162852829 CA383455652 |
310 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 313 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 326 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752533303 CA6399453 |
332 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 335 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383455823 rs1447092753 |
336 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA231856067 rs946301494 |
338 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 347 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 348 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383455915 COSM431249 rs1361446640 |
349 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 351 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 352 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16043875 rs1057519226 RCV000416167 |
352 | A>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 352 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 353 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383455950 rs1259861866 |
354 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383455974 rs1160426040 |
358 | S>G | No |
ClinGen gnomAD |
|
|
rs1205933159 CA383455991 |
360 | P>L | No |
ClinGen gnomAD |
|
|
CA383456011 rs1360069334 |
363 | F>Y | No |
ClinGen TOPMed |
|
|
rs1460015230 CA383456037 |
366 | A>E | No |
ClinGen gnomAD |
|
|
CA383456070 rs1183564005 |
371 | T>I | No |
ClinGen gnomAD |
|
|
CA6399467 rs774543663 |
379 | Y>D | No |
ClinGen ExAC |
|
| TCGA novel | 379 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs894238941 CA383456182 |
388 | V>L | No |
ClinGen TOPMed |
|
|
COSM346166 rs894238941 CA231856158 |
388 | V>M | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA231856167 rs1015955746 |
395 | A>G | No |
ClinGen TOPMed |
|
| VAR_016805 | 400 | I>V | RNA edited version [UniProt] | No | UniProt |
|
CA231856195 rs867232553 |
403 | P>L | No |
ClinGen Ensembl |
|
|
CA341651 rs113994117 |
408 | V>L | No |
ClinGen Ensembl |
|
|
RCV000293427 CA10604040 rs113994117 |
408 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1321610089 CA383456307 |
409 | S>F | No |
ClinGen gnomAD |
|
|
CA231856225 rs878940878 |
412 | N>I | No |
ClinGen Ensembl |
|
|
rs113994118 CA341653 |
414 | F>C | No |
ClinGen Ensembl |
|
|
CA383456363 rs104894358 |
417 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 418 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs971990578 CA231856236 |
420 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1204810478 CA383456409 |
423 | E>D | No |
ClinGen TOPMed |
|
|
rs979698553 COSM340961 CA231856240 |
424 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA6399482 rs751215384 |
427 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA6399481 rs779873859 |
427 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA6399484 rs756549028 |
429 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231856255 rs986001877 |
430 | V>A | No |
ClinGen TOPMed |
|
|
rs749598869 CA6399485 |
430 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 431 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1241721668 CA383456457 |
431 | S>T | No |
ClinGen gnomAD |
|
|
CA6399486 rs532197467 |
433 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383456470 rs1392938918 |
433 | P>R | No |
ClinGen gnomAD |
|
|
CA6399487 rs745972916 COSM1255216 |
435 | L>V | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1565433579 CA383456491 |
436 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 437 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs182735896 CA6399488 |
440 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139383685 COSM170922 CA6399489 |
443 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
COSM216270 CA383456542 rs1352539698 |
444 | R>H | pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs768749436 CA6399490 |
445 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA383456557 rs1225925083 |
446 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 447 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383456568 rs1259409719 |
448 | T>S | No |
ClinGen gnomAD |
|
|
rs112561866 CA6399491 |
449 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 450 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761482576 CA383456582 |
450 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs761482576 CA6399492 |
450 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA383456591 rs765269318 |
451 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6399494 rs773233842 |
452 | S>P | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs1428218301 CA383456603 |
453 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs762582185 CA6399495 |
453 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6399497 rs751268531 |
457 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383456637 rs1430522715 COSM3812215 |
458 | E>* | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA383456639 rs1373603066 |
458 | E>G | No |
ClinGen gnomAD |
|
|
rs1430522715 CA383456635 |
458 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA231856334 rs867618065 |
459 | E>K | No |
ClinGen Ensembl |
|
|
CA6399498 rs754731331 |
460 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1565433618 CA383456654 |
460 | D>V | No |
ClinGen Ensembl |
|
|
CA6399500 rs754282438 |
461 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 462 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383456704 rs368829607 |
467 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368829607 CA6399501 |
467 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs548263208 CA6399502 |
468 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6399504 rs758488049 |
469 | R>G | No |
ClinGen ExAC |
|
| TCGA novel | 469 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225368736 CA383456716 |
469 | R>K | No |
ClinGen TOPMed |
|
|
rs867107765 CA231856357 |
470 | Q>K | No |
ClinGen Ensembl |
|
|
CA6399505 rs780167432 |
471 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780167432 COSM940255 CA6399506 |
471 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6399509 rs747996470 |
473 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA231856379 rs139646303 |
474 | R>G | No |
ClinGen ESP TOPMed |
|
|
rs937476417 CA231856386 |
476 | A>S | No |
ClinGen Ensembl |
|
|
CA383456766 rs1222837086 |
477 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383456776 rs1484664630 |
478 | C>* | No |
ClinGen gnomAD |
|
|
CA383456773 rs1248121245 |
478 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs769434101 CA6399510 |
480 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA383456794 rs1430294104 |
481 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 485 | C>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1211395 CA383456826 rs766403463 |
486 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6399512 rs766403463 |
486 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351841852 CA383456833 |
487 | N>T | No |
ClinGen gnomAD |
|
|
rs758933813 CA6399514 |
487 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA383456849 RCV000492814 rs1131691765 |
489 | S>N | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1131691765 CA383456850 |
489 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs757648784 CA6399517 |
493 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
2 associated diseases with Q09470
[MIM: 160120]: Episodic ataxia 1 (EA1)
An autosomal dominant disorder characterized by brief episodes of ataxia and dysarthria. Neurological examination during and between the attacks demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve. Nystagmus is absent. {ECO:0000269|PubMed:10355668, ECO:0000269|PubMed:11013453, ECO:0000269|PubMed:11026449, ECO:0000269|PubMed:12077175, ECO:0000269|PubMed:15532032, ECO:0000269|PubMed:17156368, ECO:0000269|PubMed:7842011, ECO:0000269|PubMed:8541859, ECO:0000269|PubMed:8845167, ECO:0000269|PubMed:8871592, ECO:0000269|PubMed:9600245}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 160120]: Myokymia isolated 1 (MK1)
A condition characterized by spontaneous involuntary contraction of muscle fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Isolated spontaneous muscle twitches occur in many persons and have no grave significance. {ECO:0000269|PubMed:11026449, ECO:0000269|PubMed:17136396, ECO:0000269|PubMed:19307729, ECO:0000269|PubMed:19903818}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant disorder characterized by brief episodes of ataxia and dysarthria. Neurological examination during and between the attacks demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve. Nystagmus is absent. {ECO:0000269|PubMed:10355668, ECO:0000269|PubMed:11013453, ECO:0000269|PubMed:11026449, ECO:0000269|PubMed:12077175, ECO:0000269|PubMed:15532032, ECO:0000269|PubMed:17156368, ECO:0000269|PubMed:7842011, ECO:0000269|PubMed:8541859, ECO:0000269|PubMed:8845167, ECO:0000269|PubMed:8871592, ECO:0000269|PubMed:9600245}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A condition characterized by spontaneous involuntary contraction of muscle fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Isolated spontaneous muscle twitches occur in many persons and have no grave significance. {ECO:0000269|PubMed:11026449, ECO:0000269|PubMed:17136396, ECO:0000269|PubMed:19307729, ECO:0000269|PubMed:19903818}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
24 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. |
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| axon initial segment | Portion of the axon proximal to the neuronal cell body, at the level of the axon hillock. The action potentials that propagate along the axon are generated at the level of this initial segment. |
| axon terminus | Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal button is a specialized region of it. |
| calyx of Held | The terminal specialization of a calyciferous axon which forms large synapses in the mammalian auditory central nervous system. |
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| integral component of membrane | The component of a 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 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. |
| integral component of presynaptic membrane | The component of the presynaptic 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. |
| juxtaparanode region of axon | A region of an axon near a node of Ranvier that is between the paranode and internode regions. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| paranode region of axon | An axon part that is located adjacent to the nodes of Ranvier and surrounded by lateral loop portions of myelin sheath. |
| perikaryon | The portion of the cell soma (neuronal cell body) that excludes the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| presynaptic membrane | A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma 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. |
| voltage-gated potassium channel complex | A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| delayed rectifier potassium channel activity | Enables the transmembrane transfer of a potassium ion by a delayed rectifying voltage-gated channel. A delayed rectifying current-voltage relation is one where channel activation kinetics are time-dependent, and inactivation is slow. |
| disordered domain specific binding | Binding to a disordered domain of a protein. |
| potassium channel activity | Enables the facilitated diffusion of a potassium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| potassium ion transmembrane transporter activity | Enables the transfer of potassium ions (K+) from one side of a membrane to the other. |
| voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential | Any voltage-gated ion channel activity that is involved in regulation of postsynaptic membrane potential. |
| voltage-gated ion channel activity involved in regulation of presynaptic membrane potential | Voltage-gated ion channel activity, occurring in the presynaptic membrane, involved in regulation of presynaptic membrane potential. This is a key step in synaptic transmission, following the arrival of an action potential at the synapse. |
| voltage-gated potassium channel activity | Enables the transmembrane transfer of a potassium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
19 GO annotations of biological process
| Name | Definition |
|---|---|
| cell communication by electrical coupling | The process that mediates signaling interactions between one cell and another cell by transfer of current between their adjacent cytoplasms via intercellular protein channels. |
| cellular response to magnesium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a magnesium ion stimulus. |
| 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. |
| detection of mechanical stimulus involved in sensory perception of pain | The series of events involved in the perception of pain in which a mechanical stimulus is received and converted into a molecular signal. |
| detection of mechanical stimulus involved in sensory perception of touch | The series of events involved in the perception of touch in which a mechanical stimulus is received and converted into a molecular signal. |
| hippocampus development | The progression of the hippocampus over time from its initial formation until its mature state. |
| magnesium ion homeostasis | Any process involved in the maintenance of an internal steady state of magnesium ions within an organism or cell. |
| neuroblast proliferation | The expansion of a neuroblast population by cell division. A neuroblast is any cell that will divide and give rise to a neuron. |
| neuromuscular process | Any process pertaining to the functions of the nervous and muscular systems of an organism. |
| neuronal action potential | An action potential that occurs in a neuron. |
| neuronal signal transduction | The process in which an activated neuronal cell receptor conveys information down a signaling pathway, resulting in a change in the function or state of a cell. This process may be intracellular or intercellular. |
| positive regulation of voltage-gated potassium channel activity | Any process that activates or increases the frequency, rate or extent of voltage-gated potassium channel activity. |
| potassium ion transmembrane transport | A process in which a potassium ion is transported from one side of a membrane to the other. |
| potassium ion transport | The directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
| 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 muscle contraction | Any process that modulates the frequency, rate or extent of muscle contraction. |
| startle response | An action or movement due to the application of a sudden unexpected stimulus. |
22 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q05037 | KCNA4 | Potassium voltage-gated channel subfamily A member 4 | Bos taurus (Bovine) | PR |
| Q7T199 | KCNA10 | Potassium voltage-gated channel subfamily A member 10 | Gallus gallus (Chicken) | PR |
| P22001 | KCNA3 | Potassium voltage-gated channel subfamily A member 3 | Homo sapiens (Human) | PR |
| P22459 | KCNA4 | Potassium voltage-gated channel subfamily A member 4 | Homo sapiens (Human) | PR |
| Q16322 | KCNA10 | Potassium voltage-gated channel subfamily A member 10 | Homo sapiens (Human) | PR |
| Q96RP8 | KCNA7 | Potassium voltage-gated channel subfamily A member 7 | Homo sapiens (Human) | PR |
| Q9ULS6 | KCNS2 | Potassium voltage-gated channel subfamily S member 2 | Homo sapiens (Human) | PR |
| Q9H3M0 | KCNF1 | Potassium voltage-gated channel subfamily F member 1 | Homo sapiens (Human) | PR |
| Q14721 | KCNB1 | Potassium voltage-gated channel subfamily B member 1 | Homo sapiens (Human) | PR |
| Q8TDN2 | KCNV2 | Potassium voltage-gated channel subfamily V member 2 | Homo sapiens (Human) | PR |
| Q92953 | KCNB2 | Potassium voltage-gated channel subfamily B member 2 | Homo sapiens (Human) | PR |
| P16389 | KCNA2 | Potassium voltage-gated channel subfamily A member 2 | Homo sapiens (Human) | PR |
| Q9UK17 | KCND3 | Potassium voltage-gated channel subfamily D member 3 | Homo sapiens (Human) | PR |
| Q03721 | KCNC4 | Potassium voltage-gated channel subfamily C member 4 | Homo sapiens (Human) | PR |
| Q61423 | Kcna4 | Potassium voltage-gated channel subfamily A member 4 | Mus musculus (Mouse) | PR |
| P16390 | Kcna3 | Potassium voltage-gated channel subfamily A member 3 | Mus musculus (Mouse) | PR |
| Q17ST2 | Kcna7 | Potassium voltage-gated channel subfamily A member 7 | Mus musculus (Mouse) | PR |
| P16388 | Kcna1 | Potassium voltage-gated channel subfamily A member 1 | Mus musculus (Mouse) | PR |
| P15385 | Kcna4 | Potassium voltage-gated channel subfamily A member 4 | Rattus norvegicus (Rat) | PR |
| P15384 | Kcna3 | Potassium voltage-gated channel subfamily A member 3 | Rattus norvegicus (Rat) | PR |
| P63142 | Kcna2 | Potassium voltage-gated channel subfamily A member 2 | Rattus norvegicus (Rat) | PR |
| P10499 | Kcna1 | Potassium voltage-gated channel subfamily A member 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTVMSGENVD | EASAAPGHPQ | DGSYPRQADH | DDHECCERVV | INISGLRFET | QLKTLAQFPN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TLLGNPKKRM | RYFDPLRNEY | FFDRNRPSFD | AILYYYQSGG | RLRRPVNVPL | DMFSEEIKFY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ELGEEAMEKF | REDEGFIKEE | ERPLPEKEYQ | RQVWLLFEYP | ESSGPARVIA | IVSVMVILIS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IVIFCLETLP | ELKDDKDFTG | TVHRIDNTTV | IYNSNIFTDP | FFIVETLCII | WFSFELVVRF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FACPSKTDFF | KNIMNFIDIV | AIIPYFITLG | TEIAEQEGNQ | KGEQATSLAI | LRVIRLVRVF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RIFKLSRHSK | GLQILGQTLK | ASMRELGLLI | FFLFIGVILF | SSAVYFAEAE | EAESHFSSIP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DAFWWAVVSM | TTVGYGDMYP | VTIGGKIVGS | LCAIAGVLTI | ALPVPVIVSN | FNYFYHRETE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GEEQAQLLHV | SSPNLASDSD | LSRRSSSTMS | KSEYMEIEED | MNNSIAHYRQ | VNIRTANCTT |
| 490 | |||||
| ANQNCVNKSK | LLTDV |