P16389
PR
Gene name |
KCNA2 |
Protein name |
Potassium voltage-gated channel subfamily A member 2 |
Names |
NGK1, Voltage-gated K(+) channel HuKIV, Voltage-gated potassium channel HBK5, Voltage-gated potassium channel subunit Kv1.2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3737 |
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 P16389
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P16389-F1 | Predicted | AlphaFoldDB |
268 variants for P16389
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1487522107 RCV001306291 CA341607420 |
8 | P>L | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001575914 rs372822052 CA1000760 RCV000821582 RCV002537507 |
12 | A>V | Developmental and epileptic encephalopathy, 32 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1649522982 RCV001320298 |
15 | L>V | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224485 rs1649522718 |
16 | P>R | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA341607313 rs1570754155 RCV000821856 |
16 | P>S | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1000758 RCV002367957 RCV000558487 rs753829876 |
23 | Y>C | Developmental and epileptic encephalopathy, 32 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001236369 rs1649517174 |
57 | T>I | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1742157 CA1000750 RCV000545168 rs763353895 |
65 | R>* | Developmental and epileptic encephalopathy, 32 urinary_tract [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs1649516324 RCV001303404 RCV001587330 |
65 | R>Q | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001592991 CA341606364 COSM1211397 RCV000802363 rs1570753974 |
73 | R>* | Developmental and epileptic encephalopathy, 32 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA1000745 RCV000705035 rs373042266 |
73 | R>Q | Developmental and epileptic encephalopathy, 32 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA341606287 RCV001223588 rs747844549 |
79 | D>N | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747844549 RCV001339653 RCV001762563 |
79 | D>Y | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003156311 RCV001057465 rs1649513909 |
80 | R>Q | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1448937059 CA341606273 RCV000704983 |
80 | R>W | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1433727837 CA341606249 RCV000653136 |
82 | R>C | Developmental and epileptic encephalopathy, 32 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001296289 rs1649511099 |
93 | Q>* | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1570753862 RCV000803234 |
96 | G>missing | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001253444 rs1194485302 CA341606036 |
97 | R>Q | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1649509389 RCV001250736 |
100 | R>* | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001325411 rs1649509246 |
100 | R>Q | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1649507257 RCV001060147 |
117 | E>D | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1366378482 RCV001294554 CA341605731 |
122 | A>T | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1649502580 RCV001307665 |
141 | P>H | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001760382 RCV001315462 rs1649500367 |
150 | W>R | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001069378 rs1649498927 |
156 | P>S | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001301901 rs367662144 RCV002350546 CA1000704 |
182 | L>M | Developmental and epileptic encephalopathy, 32 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553181398 CA341603755 RCV000653132 RCV001092061 |
183 | E>K | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000689902 rs770611476 CA1000701 |
189 | R>W | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1570753525 RCV001007896 |
197 | G>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1000697 RCV002067038 RCV002315377 rs752985457 |
197 | G>D | Developmental and epileptic encephalopathy, 32 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1649489553 RCV001319052 |
198 | S>G | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1421276694 RCV001219420 |
204 | T>I | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001229455 rs1649486218 |
209 | T>A | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1649486083 RCV001339183 |
210 | I>missing | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs149727427 CA1000691 RCV000706824 |
211 | G>R | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1649483920 RCV002280152 RCV001046493 |
229 | C>missing | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA341603421 rs1553181370 RCV000623719 |
232 | W>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1570753354 RCV000792480 CA341603417 |
232 | W>S | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_085682 | 236 | E>K | DEE32; affects channel activity; mutant channels display voltage-dependent activation significantly shifted toward negative potentials compared to wild-type; no effect on channel sensitivity to 4-aminopyridine [UniProt] | Yes | UniProt |
|
RCV001246898 rs1649481724 |
246 | S>I | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001054573 rs746926057 CA1000683 |
249 | G>S | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs772053786 RCV001219585 CA1000681 |
252 | T>A | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs1649480102 RCV001053486 |
254 | I>N | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001308671 rs1649479585 |
259 | D>A | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1649479037 RCV001048797 |
261 | V>A | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000170512 rs786205231 CA199673 VAR_073704 |
263 | I>T | Developmental and epileptic encephalopathy, 32 DEE32; dominant-negative mutation; loss of channel function [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs753926939 CA1000677 RCV000705301 |
281 | A>T | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA341603067 rs1570753182 RCV000812918 |
282 | Q>* | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA341603050 rs1246925002 RCV000701240 |
284 | G>D | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA341603010 RCV001326799 rs1486839913 |
288 | M>V | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1085307768 RCV001266632 |
290 | L>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000339475 RCV000622695 RCV000706154 CA10602728 rs886041761 |
294 | R>H | Developmental and epileptic encephalopathy, 32 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786205232 VAR_073705 RCV000264400 RCV000170514 CA199675 RCV001374910 RCV000622743 RCV001252020 |
297 | R>Q | Developmental and epileptic encephalopathy, 32 Developmental and epileptic encephalopathy, 1 Neurodevelopmental disorder Inborn genetic diseases DEE32; causes a gain of function [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001382054 TCGA novel rs1649473972 RCV001268184 |
297 | R>W | Developmental and epileptic encephalopathy, 32 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
VAR_073706 RCV001092060 RCV000170513 CA10575701 rs876657390 |
298 | L>F | Developmental and epileptic encephalopathy, 32 DEE32; causes a gain of function [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000547025 rs1553181334 CA341602872 |
299 | V>L | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1649471614 RCV001301272 |
307 | L>W | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1649470988 RCV001252957 |
310 | H>R | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000585826 CA341602604 rs1553181323 |
320 | T>I | Developmental and epileptic encephalopathy, 32 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000707653 CA341602598 rs1557732226 |
321 | L>F | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000697415 rs1557732183 TCGA novel CA341602467 |
333 | F>L | Variant assessed as Somatic; impact. Developmental and epileptic encephalopathy, 32 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinGen ClinVar Ensembl dbSNP |
|
rs1553181301 RCV001531007 CA341602359 RCV000653131 |
338 | G>E | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000701882 CA341602273 rs1557732150 |
343 | S>F | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553181298 RCV000653134 |
344 | S>missing | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001060720 rs374827915 CA1000662 |
354 | R>Q | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA341602067 CA341602066 RCV001342357 rs1308544471 |
355 | E>D | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001209057 rs1317841788 CA341602051 |
356 | S>C | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001203043 CA1000658 COSM1560110 rs756214647 |
370 | V>I | Developmental and epileptic encephalopathy, 32 Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000520764 RCV000986393 rs1553181282 CA341601766 |
373 | T>I | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA341601761 rs1553181280 RCV000677419 |
374 | T>A | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1557732017 CA341601734 RCV000699887 |
376 | G>A | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs777008812 COSM261491 CA28808695 RCV000702425 RCV001759400 |
382 | P>L | Developmental and epileptic encephalopathy, 32 Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA341601590 rs1197586006 RCV000653133 RCV002360660 |
385 | I>T | Developmental and epileptic encephalopathy, 32 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001318583 rs1649457707 |
399 | V>G | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000483386 RCV001824800 RCV000723323 CA16616954 rs1064794738 |
399 | V>M | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1649457143 RCV001217730 RCV001092059 |
403 | A>V | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_073707 rs876657389 CA10575700 |
405 | P>L | Variant assessed as Somatic; impact. DEE32; loss of channel function [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001241518 rs876657389 |
405 | P>R | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA341601283 rs1553181257 RCV000653137 |
406 | V>F | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1557731896 RCV001217681 CA341601270 RCV000761676 |
407 | P>A | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001295048 rs1557731896 |
407 | P>S | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1570752696 CA341601254 RCV000824855 |
408 | V>A | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001058042 rs1570752696 |
408 | V>G | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001299071 rs749520613 RCV000819981 CA341601170 |
414 | N>K | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1557731858 RCV000761675 RCV001319318 CA341601135 |
417 | Y>C | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1296710118 RCV000539492 CA341601105 |
419 | R>Q | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001233488 rs1064796294 RCV000478745 |
422 | E>missing | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA341600911 RCV000653135 rs1553181236 |
435 | C>S | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs765999960 RCV001321096 CA1000633 |
452 | T>S | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1649446402 RCV001315941 |
458 | Y>H | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034363 rs1649445890 |
460 | E>D | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000992217 CA341600312 RCV002067593 rs1243868138 |
478 | K>R | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001295788 CA1000621 rs149776127 |
489 | Y>C | Developmental and epileptic encephalopathy, 32 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1017816495 RCV001255031 |
499 | V>A | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1000766 rs780224375 |
5 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs770338663 CA28809338 CA1000765 |
6 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA28809337 rs746657035 |
7 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs746657035 CA1000764 |
7 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1193386226 CA341607415 |
9 | A>T | No |
ClinGen TOPMed |
|
|
CA1000761 rs752100849 COSM1165138 |
11 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
CA1000759 rs754808361 |
18 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA341607195 rs1403692006 |
22 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775717316 CA28809302 |
25 | P>S | No |
ClinGen TOPMed |
|
|
rs750618978 CA1000755 |
27 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA341606924 rs1570754087 |
35 | V>G | No |
ClinGen Ensembl |
|
|
rs762125530 CA1000753 COSM331885 |
35 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA28809264 rs954141535 |
36 | V>M | No |
ClinGen Ensembl |
|
|
CA28809261 rs772058917 |
43 | R>Q | No |
ClinGen gnomAD |
|
|
CA341606685 rs1313231897 |
47 | Q>H | No |
ClinGen TOPMed |
|
|
rs1039144241 CA28809250 |
56 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 68 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376402499 CA1000748 |
70 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs867113839 CA28809236 |
71 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 71 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1000744 rs747844549 |
79 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386301058 CA341606246 COSM1600532 |
82 | R>H | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1161306229 CA341606162 |
88 | I>V | No |
ClinGen gnomAD |
|
|
CA1000740 rs780012503 |
90 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 91 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757363655 CA1000736 |
96 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA341605986 rs1212004960 |
101 | P>L | No |
ClinGen gnomAD |
|
|
CA28809186 rs967816533 |
102 | V>E | No |
ClinGen Ensembl |
|
|
CA341605963 rs1361080553 |
103 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs765790719 CA1000731 |
108 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1378744195 CA341605903 |
108 | I>T | No |
ClinGen TOPMed |
|
|
CA1000732 rs776120904 |
108 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 109 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760151984 CA1000730 |
114 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1271481592 CA341605830 |
114 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 115 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 118 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201189661 CA1000729 |
119 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1000728 rs771343894 |
121 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs774090728 CA1000726 |
122 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1392084106 CA341605714 |
123 | M>T | No |
ClinGen gnomAD |
|
|
rs1245498492 CA341605675 |
125 | M>I | No |
ClinGen gnomAD |
|
|
rs372813906 CA1000723 |
125 | M>K | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 126 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755978128 CA1000722 |
127 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA341605619 rs1490624296 |
129 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 131 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759722211 CA28809099 |
133 | I>V | No |
ClinGen TOPMed |
|
|
rs757141567 CA1000719 |
138 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 139 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341605464 rs1214651255 |
142 | E>K | No |
ClinGen gnomAD |
|
|
CA341605421 rs1333449505 |
145 | F>I | No |
ClinGen TOPMed |
|
|
rs764428302 CA341605391 |
146 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341605383 rs1406503449 |
147 | R>K | No |
ClinGen gnomAD |
|
|
CA341605363 rs1345881188 |
149 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 151 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1000716 rs75650028 |
152 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1570753687 CA341605300 |
154 | E>* | No |
ClinGen Ensembl |
|
|
rs1179169384 CA341603915 |
170 | V>I | No |
ClinGen gnomAD |
|
|
rs768309729 CA341603887 CA1000707 |
171 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs773468235 CA1000708 |
171 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA1000709 rs773468235 |
171 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1180558319 CA341603822 |
177 | I>V | No |
ClinGen gnomAD |
|
|
CA1000706 rs762594923 |
178 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341603764 rs1204552776 |
181 | C>S | No |
ClinGen gnomAD |
|
|
rs781228990 CA1000702 |
187 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 189 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375738422 CA341603713 |
189 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA341603683 rs1200659045 |
193 | E>A | No |
ClinGen TOPMed |
|
|
rs777460534 CA1000699 COSM335088 |
195 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1236458517 CA341603669 |
195 | M>V | No |
ClinGen TOPMed |
|
|
rs758580148 CA1000698 |
196 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA28808997 rs980579179 |
196 | H>R | No |
ClinGen TOPMed |
|
|
CA1000696 rs779126461 |
198 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs202006083 CA341603634 |
200 | V>A | No |
ClinGen 1000Genomes TOPMed |
|
|
rs202006083 CA28808980 |
200 | V>G | No |
ClinGen 1000Genomes TOPMed |
|
|
CA341603632 rs1016641998 |
201 | T>P | No |
ClinGen TOPMed |
|
|
CA28808972 rs1016641998 |
201 | T>S | No |
ClinGen TOPMed |
|
|
rs1421276694 CA341603608 |
204 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA341603581 rs1177397709 |
208 | S>N | No |
ClinGen gnomAD |
|
|
rs149727427 CA1000690 |
211 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 212 | Y>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762580714 CA1000689 |
214 | Q>K | No |
ClinGen ExAC |
|
|
rs775188956 CA1000688 |
216 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs566272372 CA28808919 |
221 | P>A | No |
ClinGen Ensembl |
|
|
rs1318471748 CA341603433 |
230 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 233 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1211398 CA341603353 rs1377332678 |
241 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA341603324 rs1557732458 |
245 | P>T | No |
ClinGen Ensembl |
|
|
rs1353017076 CA341603293 |
249 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1455846040 CA341603266 |
253 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 259 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341603215 rs1286846139 |
260 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1318979970 CA341603187 |
264 | I>T | No |
ClinGen TOPMed |
|
|
CA1000679 rs779320620 |
275 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 276 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1246925002 CA341603048 |
284 | G>V | No |
ClinGen gnomAD |
|
|
CA1000675 rs756582288 |
288 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA341602976 RCV000488922 rs1085307768 |
290 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM527440 CA28808861 rs941480281 |
294 | R>C | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 303 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341602728 rs1342073847 |
310 | H>Y | No |
ClinGen gnomAD |
|
|
rs1434784852 CA341602663 |
315 | Q>P | No |
ClinGen gnomAD |
|
| VAR_078206 | 324 | S>T | probable disease-associated variant found in a patient with drug-resistant epilepsy [UniProt] | No | UniProt |
|
rs1424954493 CA341602507 |
328 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV000430824 CA16603393 rs1057523703 |
330 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1399021954 CA341602470 |
332 | I>M | No |
ClinGen gnomAD |
|
|
rs1164459721 CA341602478 |
332 | I>V | No |
ClinGen TOPMed |
|
|
rs79858616 CA28808833 |
337 | I>R | No |
ClinGen Ensembl |
|
|
CA341602336 rs1167784565 |
340 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 350 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341602139 COSM138220 rs1270837574 |
352 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1223478964 CA341602094 |
354 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341602074 rs1229719081 |
355 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 357 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 359 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341601969 RCV000494680 rs1131691974 |
362 | P>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1209470110 CA341601786 |
372 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 374 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341601703 rs1373532783 |
378 | G>E | No |
ClinGen gnomAD |
|
|
rs757784550 CA1000655 |
381 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA341601604 rs754568553 |
384 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA1000652 rs754568553 |
384 | T>S | No |
ClinGen ExAC gnomAD |
|
|
COSM201145 RCV000994066 rs1570752776 CA341601440 |
395 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs773181967 CA1000648 |
396 | I>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000494245 rs1131691939 CA341601349 |
401 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1366237350 CA341601345 |
402 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 407 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1000644 rs768627161 |
412 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1392813727 CA341601152 |
416 | F>Y | No |
ClinGen gnomAD |
|
|
rs1421981152 CA341601113 |
419 | R>W | No |
ClinGen TOPMed |
|
|
CA1000638 rs200107528 |
433 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341600934 rs1244141892 |
433 | T>K | No |
ClinGen TOPMed |
|
|
CA341600918 CA28808594 rs141901988 |
434 | S>R | No |
ClinGen ESP TOPMed |
|
|
CA341600902 rs1289008392 |
436 | P>S | No |
ClinGen gnomAD |
|
|
CA341600865 rs1228841616 |
438 | I>S | No |
ClinGen gnomAD |
|
|
rs1302772655 CA341600872 |
438 | I>V | No |
ClinGen Ensembl |
|
|
rs1214241331 CA341600846 |
440 | S>F | No |
ClinGen TOPMed |
|
|
rs146939033 CA28808585 |
441 | S>Y | No |
ClinGen ESP |
|
|
CA28808578 rs982474551 |
442 | P>S | No |
ClinGen TOPMed |
|
|
rs1463003644 CA341600821 |
443 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 443 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142150310 CA28808573 |
449 | S>N | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 450 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765999960 CA1000634 |
452 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765999960 CA341600704 |
452 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341600602 rs1240735950 |
459 | M>T | No |
ClinGen gnomAD |
|
|
rs371146552 CA1000632 |
459 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 462 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1000630 rs767147366 |
462 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs751612662 CA341600537 |
463 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1000629 rs761826388 |
463 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 464 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341600519 rs1437415565 |
465 | V>L | No |
ClinGen TOPMed |
|
|
rs775376332 CA1000625 |
466 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1000624 rs573371002 |
467 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 470 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341600436 rs1454440407 |
471 | D>N | No |
ClinGen gnomAD |
|
|
CA341600413 rs1368128850 |
472 | F>C | No |
ClinGen gnomAD |
|
|
CA28808528 rs754581443 |
475 | E>A | No |
ClinGen Ensembl |
|
|
CA1000623 rs759809934 |
479 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA341600276 rs1445835017 |
480 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA341600280 rs1445835017 |
480 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA341600269 rs1286780370 |
480 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1206099671 CA341600257 |
481 | N>S | No |
ClinGen gnomAD |
|
|
rs1290617182 CA341600245 |
482 | C>Y | No |
ClinGen gnomAD |
|
|
rs1243365734 COSM1497786 CA341600236 |
483 | T>A | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs976339794 CA28808517 |
483 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA28808467 rs1041017880 |
492 | I>T | No |
ClinGen Ensembl |
|
|
CA1000620 rs747514112 |
494 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1395564002 CA341600041 |
495 | M>T | No |
ClinGen TOPMed |
|
|
rs772464176 CA1000618 |
496 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1017816495 CA28808423 |
499 | V>G | No |
ClinGen TOPMed gnomAD |
1 associated diseases with P16389
[MIM: 616366]: Developmental and epileptic encephalopathy 32 (DEE32)
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE32 inheritance is autosomal dominant. {ECO:0000269|PubMed:25477152, ECO:0000269|PubMed:25751627, ECO:0000269|PubMed:34576077}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE32 inheritance is autosomal dominant. {ECO:0000269|PubMed:25477152, ECO:0000269|PubMed:25751627, ECO:0000269|PubMed:34576077}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
17 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| 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. |
| 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 membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| 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 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. |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| lamellipodium membrane | The portion of the plasma membrane surrounding a lamellipodium. |
| neuronal cell body membrane | The plasma membrane of a neuron cell body - excludes the plasma membrane of cell projections such as axons and dendrites. |
| paranodal junction | A highly specialized cell-cell junction found in vertebrates, which forms between a neuron and a glial cell, and has structural similarity to Drosophila septate junctions. It flanks the node of Ranvier in myelinated nerve and electrically isolates the myelinated from unmyelinated nerve segments and physically separates the voltage-gated sodium channels at the node from the cluster of potassium channels underneath the 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. |
| 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. |
5 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. |
| kinesin binding | Interacting selectively and non-covalently and stoichiometrically with kinesin, a member of a superfamily of microtubule-based motor proteins that perform force-generating tasks such as organelle transport and chromosome segregation. |
| outward rectifier potassium channel activity | Enables the transmembrane transfer of a potassium ion by an outwardly-rectifying voltage-gated channel. An outwardly rectifying current-voltage relation is one where at any given driving force the outward flow of K+ ions exceeds the inward flow for the opposite driving force. |
| 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. |
| 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. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| neuronal action potential | An action potential that occurs in a neuron. |
| optic nerve structural organization | The process that contributes to the act of creating the structural organization of the optic nerve. This process pertains to the physical shaping of a rudimentary structure. The sensory optic nerve originates from the bipolar cells of the retina and conducts visual information to the brainstem. The optic nerve exits the back of the eye in the orbit, enters the optic canal, and enters the central nervous system at the optic chiasm (crossing) where the nerve fibers become the optic tract just prior to entering the hindbrain. |
| potassium ion export across plasma membrane | The directed movement of potassium ions from inside of a cell, across the plasma membrane and into the extracellular region. |
| 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. |
| regulation of circadian sleep/wake cycle, non-REM sleep | Any process that modulates the frequency, rate or extent of non-rapid eye movement sleep. |
| regulation of dopamine secretion | Any process that modulates the frequency, rate or extent of the regulated release of dopamine. |
| regulation of ion transmembrane transport | Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
| sensory perception of pain | The series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. Pain is medically defined as the physical sensation of discomfort or distress caused by injury or illness, so can hence be described as a harmful stimulus which signals current (or impending) tissue damage. Pain may come from extremes of temperature, mechanical damage, electricity or from noxious chemical substances. This is a neurological process. |
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 |
| P22459 | KCNA4 | Potassium voltage-gated channel subfamily A member 4 | Homo sapiens (Human) | PR |
| P22001 | KCNA3 | Potassium voltage-gated channel subfamily A member 3 | 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 |
| Q09470 | KCNA1 | Potassium voltage-gated channel subfamily A member 1 | 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 |
| Q9ULS6 | KCNS2 | Potassium voltage-gated channel subfamily S member 2 | 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 |
| Q9H3M0 | KCNF1 | Potassium voltage-gated channel subfamily F member 1 | Homo sapiens (Human) | PR |
| Q92953 | KCNB2 | Potassium voltage-gated channel subfamily B member 2 | 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 |
| P16388 | Kcna1 | Potassium voltage-gated channel subfamily A member 1 | Mus musculus (Mouse) | PR |
| Q17ST2 | Kcna7 | Potassium voltage-gated channel subfamily A member 7 | 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 |
| P10499 | Kcna1 | Potassium voltage-gated channel subfamily A member 1 | Rattus norvegicus (Rat) | PR |
| P63142 | Kcna2 | Potassium voltage-gated channel subfamily A member 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTVATGDPAD | EAAALPGHPQ | DTYDPEADHE | CCERVVINIS | GLRFETQLKT | LAQFPETLLG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DPKKRMRYFD | PLRNEYFFDR | NRPSFDAILY | YYQSGGRLRR | PVNVPLDIFS | EEIRFYELGE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EAMEMFREDE | GYIKEEERPL | PENEFQRQVW | LLFEYPESSG | PARIIAIVSV | MVILISIVSF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CLETLPIFRD | ENEDMHGSGV | TFHTYSNSTI | GYQQSTSFTD | PFFIVETLCI | IWFSFEFLVR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FFACPSKAGF | FTNIMNIIDI | VAIIPYFITL | GTELAEKPED | AQQGQQAMSL | AILRVIRLVR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VFRIFKLSRH | SKGLQILGQT | LKASMRELGL | LIFFLFIGVI | LFSSAVYFAE | ADERESQFPS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IPDAFWWAVV | SMTTVGYGDM | VPTTIGGKIV | GSLCAIAGVL | TIALPVPVIV | SNFNYFYHRE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TEGEEQAQYL | QVTSCPKIPS | SPDLKKSRSA | STISKSDYME | IQEGVNNSNE | DFREENLKTA |
| 490 | |||||
| NCTLANTNYV | NITKMLTDV |