Q14721
PR
Gene name |
KCNB1 |
Protein name |
Potassium voltage-gated channel subfamily B member 1 |
Names |
Delayed rectifier potassium channel 1, DRK1, h-DRK1, Voltage-gated potassium channel subunit Kv2.1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3745 |
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
3 structures for Q14721
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7RE5 | X-ray | 250 A | A/B/C/D/E | 29-147 | PDB |
| 7SPD | X-ray | 270 A | A/B/C/D/E | 29-147 | PDB |
| AF-Q14721-F1 | Predicted | AlphaFoldDB |
342 variants for Q14721
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1054441474 CA315158702 RCV001034297 |
2 | P>S | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000700655 RCV001281564 CA315158686 rs936778119 |
7 | K>E | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001205931 RCV001760170 rs769852170 CA9903231 |
28 | A>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000806054 rs1601162716 |
40 | L>missing | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001060788 rs1980525336 |
41 | A>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA408951708 RCV000704548 rs1568658526 |
42 | H>Q | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1601162563 CA408950303 RCV000822606 |
103 | R>* | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
TCGA novel RCV001221859 rs1179147119 CA408949539 |
144 | M>I | Developmental and epileptic encephalopathy, 26 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar dbSNP NCI-TCGA ClinGen gnomAD |
|
CA9903203 rs144926751 RCV000706779 RCV002532851 |
157 | E>D | Inborn genetic diseases Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
RCV000535124 rs1555889171 |
193 | I>K | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000990313 rs1601072041 |
199 | I>F | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000477875 rs1060499607 |
202 | S>F | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001213195 rs1984276555 |
209 | N>K | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001565799 rs1555889162 RCV000652424 RCV001249559 RCV000677403 |
210 | T>M | KCNB1-related disorder Developmental and epileptic encephalopathy, 26 developmental encephalopathy with epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001257728 RCV001008712 rs1601071971 |
215 | Q>* | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002225794 RCV001070308 rs1315753296 |
235 | V>M | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000801458 rs1601071839 |
246 | L>R | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057679 rs1984270863 |
247 | R>K | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001315922 rs1984270019 |
251 | S>L | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1984269566 RCV001294363 |
252 | P>S | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569017375 RCV000694167 |
271 | L>P | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000990312 rs1601071747 |
272 | P>S | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001858864 rs1601071708 RCV000997789 |
281 | E>K | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001217148 rs1194019938 |
286 | V>M | Variant assessed as Somatic; impact. Developmental and epileptic encephalopathy, 26 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000824492 rs1601071660 |
288 | Q>missing | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209556 rs1984264748 |
293 | R>C | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749981323 RCV001344351 |
297 | Q>R | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs202170806 RCV001262847 |
300 | R>C | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000413312 rs1057518621 RCV000699040 |
303 | R>Q | Variant assessed as Somatic; impact. Developmental and epileptic encephalopathy, 26 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
VAR_075573 RCV001249560 RCV001003632 rs1555889130 RCV000688503 RCV000520238 RCV001255349 RCV000782146 |
306 | R>C | Intellectual disability Variant assessed as Somatic; impact. developmental encephalopathy with epilepsy Developmental and epileptic encephalopathy, 26 DEE26; reduces sensitivity and cooperativity of the voltage sensor for channel opening and greatly suppresses repetitive firing in cultured cortical neurons [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinVar UniProt NCI-TCGA dbSNP |
|
TCGA novel RCV001262131 rs1984262011 |
306 | R>H | Variant assessed as Somatic; impact. Developmental and epileptic encephalopathy, 26 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000782148 RCV001249561 RCV001171607 rs1555889127 RCV000626870 RCV001249555 RCV001257726 RCV001868163 |
312 | R>H | Early infantile epileptic encephalopathy with suppression bursts Intellectual disability developmental encephalopathy with epilepsy Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002528252 rs918313461 RCV000519170 |
313 | H>Y | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002246234 RCV001249556 rs1984259606 |
319 | S>F | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759765009 RCV001345024 |
325 | R>Q | Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 26 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001265994 rs1276378675 RCV001587306 RCV002537682 |
325 | R>W | Inborn genetic diseases Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001232315 rs1984257387 |
329 | N>S | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000622509 rs1555889114 |
330 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000782151 RCV000677688 rs1555889108 |
334 | L>P | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1984255406 RCV001066705 |
339 | A>P | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000144689 rs587777848 VAR_071991 RCV001266628 RCV002273960 |
347 | S>R | Inborn genetic diseases Developmental and epileptic encephalopathy, 26 DEE26; inhibits ion selectivity and gain of a depolarizing inward cation conductance; trafficks normally to the cell surface [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV000782153 RCV001331324 rs1569017205 |
349 | V>F | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000652422 rs1555889103 |
363 | S>missing | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1984252463 RCV001267158 |
367 | S>F | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1984252016 RCV001257727 |
369 | W>* | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000782154 rs1569017174 RCV000805612 |
369 | W>R | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1984251749 RCV001531966 RCV001172333 |
370 | W>* | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000782155 rs1569017160 |
372 | T>I | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569017160 RCV000782156 |
372 | T>N | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587777849 VAR_071992 RCV000444433 RCV000144690 |
374 | T>I | Developmental and epileptic encephalopathy, 26 DEE26; inhibits ion selectivity and gain of a depolarizing inward cation conductance; trafficks normally to the cell surface [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs1984250919 RCV001230456 |
375 | M>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569017148 RCV001210980 |
377 | T>I | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1984250089 VAR_075574 RCV001093363 |
378 | V>A | DEE26; change in the ion selectivity from potassium-selective to nonselective cation channels and significant decrease in cell membrane localization [UniProt] | Yes |
ClinVar dbSNP UniProt |
|
VAR_071993 rs587777850 RCV000144691 |
379 | G>R | Developmental and epileptic encephalopathy, 26 DEE26; inhibits ion selectivity and gain of a depolarizing inward cation conductance; trafficks normally to the cell surface [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs1984249721 RCV001333329 |
379 | G>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000782159 rs1569017123 RCV001253039 |
380 | Y>C | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569017114 RCV000699581 |
381 | G>E | Variant assessed as Somatic; impact. Developmental and epileptic encephalopathy, 26 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1984248540 RCV001213891 |
382 | D>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000477903 RCV001249557 rs1060499592 |
385 | P>T | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs959316981 RCV001255320 RCV000656399 RCV000782162 |
395 | G>R | Intellectual disability Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000799571 RCV000519199 rs1555889084 |
397 | C>Y | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000782163 VAR_075575 rs1569017045 RCV001869161 |
401 | G>R | Developmental and epileptic encephalopathy, 26 DEE26; dominant-negative mutation resulting in loss of endogenous channel currents and greatly suppresses repetitive firing in cultured cortical neurons [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs1984245487 RCV001333330 |
402 | V>A | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1984244898 RCV001063036 |
404 | V>M | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601071099 RCV000816106 |
406 | A>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601071085 RCV000985159 |
408 | P>S | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569017025 RCV000782164 |
409 | I>T | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001262293 rs1984243311 |
413 | V>I | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000850450 rs1601071071 |
414 | N>D | Marfanoid habitus and intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001065353 rs1984242860 |
416 | F>L | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000768242 rs755843579 |
422 | E>D | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752596402 RCV001034486 |
432 | R>W | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000482147 rs1064794764 RCV000763447 |
433 | R>* | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001504159 rs776968332 |
446 | V>I | Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 26 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1984239766 RCV001033960 |
448 | M>I | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001225867 rs1984239652 |
449 | N>D | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001219959 rs760931963 |
452 | D>G | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368043123 RCV001202830 RCV001823184 |
456 | R>G | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000534631 rs761082551 RCV001704291 |
456 | R>Q | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000548517 RCV001672864 rs145421532 |
463 | I>T | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000688265 rs1294696493 |
465 | V>I | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1984236966 RCV001252021 |
466 | E>D | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001316647 rs1171133807 |
482 | H>N | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750701951 RCV001246168 |
482 | H>Q | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1388412501 RCV000824180 |
486 | N>K | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001249558 RCV002290661 rs1984233764 |
488 | W>* | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569016820 RCV000782166 |
497 | E>* | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601070652 RCV001027969 |
510 | G>* | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767889610 RCV001071214 |
510 | G>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000652425 rs140932636 RCV001720164 |
526 | V>I | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1984228484 RCV001089749 |
532 | M>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1984228232 RCV001033989 |
533 | Y>H | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207638 rs1984227856 RCV001760175 |
536 | M>L | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs374460751 RCV001034350 |
541 | S>Y | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs370974891 RCV000800346 RCV001557356 |
552 | A>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761452916 RCV001696777 RCV001316495 |
565 | I>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000809665 rs376490656 RCV001655604 |
569 | V>I | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000435306 rs947355756 RCV001305148 |
575 | R>C | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs544069848 RCV001034381 |
575 | R>H | Variant assessed as Somatic; 4.622e-05 impact. Developmental and epileptic encephalopathy, 26 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1355278265 RCV000541797 |
576 | T>K | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000990311 rs781663444 RCV000782167 |
583 | R>* | Intellectual disability Variant assessed as Somatic; impact. Developmental and epileptic encephalopathy, 26 [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001237087 rs1984217696 |
596 | T>missing | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000418263 RCV000547716 RCV000712109 rs112735799 |
613 | P>S | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034371 VAR_062182 rs2229006 |
616 | T>N | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
RCV000712110 RCV000526010 RCV000444175 VAR_062183 rs2229006 |
616 | T>S | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
RCV001057919 rs771932289 |
618 | G>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000879433 rs201960228 RCV001558723 |
621 | A>S | Variant assessed as Somatic; 4.621e-05 impact. Developmental and epileptic encephalopathy, 26 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000818528 rs770069345 RCV001766728 |
621 | A>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001712313 RCV001247945 rs754927664 |
627 | R>Q | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034110 rs554351105 |
627 | R>W | Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 26 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001034477 rs1433173706 |
631 | G>C | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001093361 RCV002555967 rs1247080453 |
646 | A>D | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002553798 RCV001055628 rs1447311755 |
646 | A>T | Inborn genetic diseases Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1276898684 RCV001218964 |
654 | I>F | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs769948178 RCV000792804 |
655 | E>K | Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 26 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001225428 rs1392516083 |
661 | M>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001698159 RCV000555745 rs201212125 |
666 | P>L | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001264690 rs1984206797 RCV001880085 |
670 | R>* | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000699132 RCV001562211 rs753575587 |
670 | R>Q | Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 26 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV002552444 rs372263564 RCV001034472 |
687 | V>I | Inborn genetic diseases Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000800093 rs1601069788 |
688 | L>P | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001587224 RCV001207552 rs1449919002 |
698 | R>Q | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002252358 RCV001304638 rs779379680 |
698 | R>W | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1984201256 RCV001235544 |
700 | S>N | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000699453 rs144379782 |
702 | A>E | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000940203 RCV001400216 rs144379782 |
702 | A>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000705320 rs779750227 |
706 | A>T | Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 26 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000818286 rs775588653 |
712 | T>M | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601069538 RCV000802345 RCV001796234 |
715 | D>H | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000652423 rs774976039 |
718 | V>M | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs778296598 RCV001300764 |
727 | T>S | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001303743 rs780940515 |
734 | P>H | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1214997887 RCV000529855 |
734 | P>S | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267605983 RCV000694403 |
735 | P>A | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1984193843 RCV001238873 |
735 | P>L | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000997787 RCV002549981 rs754428005 |
736 | R>W | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001048083 rs1984191107 |
745 | A>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001561650 RCV001051795 rs750157634 |
750 | A>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001223474 rs774577428 |
758 | A>S | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687101 rs774577428 |
758 | A>T | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1304300872 RCV001855375 RCV000658369 |
771 | D>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001518675 rs748597382 |
774 | P>T | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142461221 RCV001219107 |
775 | P>A | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000731272 rs530927636 RCV000701236 |
775 | P>H | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000487902 rs530927636 RCV001088590 |
775 | P>R | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001558058 rs756982426 RCV000701515 |
776 | K>R | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1984182896 RCV001307323 |
777 | S>G | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322558 rs751639377 |
782 | T>I | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001298441 rs751639377 |
782 | T>S | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000698867 rs766596568 |
784 | P>L | Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 26 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001683625 rs140932985 RCV000652433 |
788 | T>K | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs140932985 RCV001034169 |
788 | T>M | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000494453 RCV000697036 rs1131691752 |
798 | E>Q | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001230507 rs1262864745 |
804 | T>A | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000413687 rs1049874069 RCV001851000 |
804 | T>I | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034379 rs1249019020 |
806 | P>L | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210501 rs1471856482 |
806 | P>S | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001255109 RCV001034480 RCV000421360 rs565025643 |
814 | I>M | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034526 rs373423740 |
819 | A>T | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001434972 rs777645076 |
819 | A>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1984174923 RCV001303186 |
820 | L>F | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034177 rs780469478 |
824 | G>D | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000436736 RCV000544909 rs34467662 VAR_034049 RCV000712111 |
825 | P>S | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
rs1984172893 RCV001319525 |
838 | S>P | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761070687 RCV000612907 RCV000559563 |
839 | P>L | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1984172647 RCV001350088 |
839 | P>T | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001294302 rs758964585 |
842 | R>C | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1386449842 RCV001231182 |
846 | G>V | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001321573 rs780416138 |
854 | R>* | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_062184 RCV000533612 rs34280195 RCV000712112 RCV000426573 |
857 | S>N | Developmental and epileptic encephalopathy, 26 [ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
CA408952649 rs1279418021 |
2 | P>R | No |
ClinGen TOPMed |
|
|
CA408952595 rs1156516300 |
4 | G>C | No |
ClinGen gnomAD |
|
|
rs924619372 CA315158688 |
5 | M>L | No |
ClinGen Ensembl |
|
|
CA408952567 rs1280741933 |
5 | M>R | No |
ClinGen TOPMed |
|
|
rs1053853164 CA315158687 |
6 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA315158680 rs1051157537 |
8 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs902335211 CA315158667 |
10 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs902335211 CA408952458 |
10 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA315158665 rs1042622178 |
11 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA408952433 rs1042622178 |
11 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1318853446 CA408952423 |
11 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1318853446 CA408952427 |
11 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408952370 rs1345903931 |
14 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 19 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs976018808 CA315158639 |
19 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1489259002 CA408952256 |
20 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1433503190 CA408952227 |
21 | M>I | No |
ClinGen gnomAD |
|
|
rs1299388667 CA408952229 |
21 | M>K | No |
ClinGen gnomAD |
|
|
CA408952241 rs1345254263 |
21 | M>L | No |
ClinGen gnomAD |
|
|
rs745635029 CA408952188 |
22 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1315539508 CA408952181 |
23 | I>T | No |
ClinGen gnomAD |
|
|
CA9903232 rs778774389 |
24 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1255244 rs1479362052 CA408952159 |
25 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA408952161 rs1479362052 |
25 | R>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 27 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408952085 rs769852170 |
28 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1265291573 CA408951978 |
32 | R>Q | No |
ClinGen gnomAD |
|
|
CA315158570 rs201544419 |
33 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 36 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555801618 RCV000498592 CA408951839 |
38 | G>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA9903228 rs755023671 |
41 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA408951695 rs1568658507 RCV000782143 |
43 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1429354019 CA408951705 COSM1615716 |
43 | E>K | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA315158552 rs878960130 |
44 | V>G | No |
ClinGen Ensembl |
|
|
CA9903227 rs551083482 |
47 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408951609 rs1338339252 |
47 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs551083482 CA408951620 |
47 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1467898135 CA408951580 |
50 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 51 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408951327 rs1417246750 |
61 | R>S | No |
ClinGen gnomAD |
|
|
CA9903224 rs750685018 |
62 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1191148690 CA408951090 |
67 | D>A | No |
ClinGen TOPMed |
|
|
rs201504536 CA315158487 |
68 | S>L | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 75 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 76 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408950843 rs1306293360 |
79 | D>E | No |
ClinGen gnomAD |
|
|
CA408950649 rs1407696419 |
87 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 91 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1316517874 CA408950497 |
95 | I>V | No |
ClinGen gnomAD |
|
|
CA315158463 rs34454438 |
96 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 103 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA315158432 rs866924758 |
103 | R>Q | No |
ClinGen Ensembl |
|
|
CA9903213 rs201414449 |
125 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 137 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112771641 CA315158328 |
143 | Q>R | No |
ClinGen Ensembl |
|
|
CA408949483 rs1479885168 |
148 | L>F | No |
ClinGen gnomAD |
|
|
rs373914175 CA9903207 |
149 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9903206 rs779102973 |
150 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs754303831 CA9903204 |
156 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9903201 rs752198589 |
161 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767078520 CA408949220 |
163 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9903198 rs561872604 |
169 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA315158170 rs376247689 |
169 | A>V | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 174 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347069000 CA408948912 |
175 | L>P | No |
ClinGen gnomAD |
|
|
rs1468955288 CA408948872 |
177 | D>N | No |
ClinGen TOPMed |
|
|
CA408948720 rs1419214886 |
183 | N>S | No |
ClinGen TOPMed |
|
|
RCV001093365 rs1980508600 |
189 | K>N | No |
ClinVar dbSNP |
|
|
RCV001696918 rs748573940 |
200 | V>I | Variant assessed as Somatic; 4.958e-05 impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA dbSNP |
|
RCV001200152 rs1060499607 |
202 | S>C | No |
ClinVar dbSNP |
|
| TCGA novel | 205 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555889162 RCV000782144 |
210 | T>R | No |
ClinVar dbSNP |
|
| TCGA novel | 212 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555889157 RCV000598646 |
221 | G>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 233 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 234 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000275163 rs886041617 |
274 | Y>missing | No |
ClinVar dbSNP |
|
|
RCV000782145 rs1569017337 |
286 | V>missing | No |
ClinVar dbSNP |
|
| rs1248202359 | 294 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779573636 | 294 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs961939683 | 295 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1391326211 | 303 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 305 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 306 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs886039396 | 312 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000417762 rs1057521887 |
313 | H>R | No |
ClinVar dbSNP |
|
|
rs1984260160 RCV001093364 |
314 | S>A | No |
ClinVar dbSNP |
|
|
rs1569017257 RCV000782149 RCV002274100 |
323 | T>I | No |
ClinVar dbSNP |
|
|
rs1984257835 RCV001268087 |
327 | S>missing | No |
ClinVar dbSNP |
|
|
rs1179351306 RCV000782150 |
328 | Y>* | No |
ClinVar dbSNP |
|
|
RCV000494002 rs1131691489 |
330 | E>D | No |
ClinVar dbSNP |
|
| TCGA novel | 331 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000521815 rs1555889110 |
332 | G>V | No |
ClinVar dbSNP |
|
| TCGA novel | 336 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 343 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1057524688 RCV000441478 |
353 | E>K | No |
ClinVar dbSNP |
|
| TCGA novel | 360 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1601071350 RCV001009125 |
366 | A>missing | No |
ClinVar dbSNP |
|
|
RCV000289518 rs886041743 |
370 | W>R | No |
ClinVar dbSNP |
|
|
rs1569017148 RCV000782157 |
377 | T>N | No |
ClinVar dbSNP |
|
|
RCV001592961 RCV000782158 rs1569017143 |
378 | V>L | No |
ClinVar dbSNP |
|
|
RCV000523290 rs1555889090 |
382 | D>H | No |
ClinVar dbSNP |
|
|
RCV000782160 rs1555889090 |
382 | D>N | No |
ClinVar dbSNP |
|
| TCGA novel | 387 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 393 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569017073 RCV000782161 |
394 | G>R | No |
ClinVar dbSNP |
|
| TCGA novel | 402 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 409 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569017015 RCV000782165 |
416 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA dbSNP |
|
rs1064795048 RCV000483295 |
422 | E>A | No |
ClinVar dbSNP |
|
| TCGA novel | 429 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1430893485 | 432 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 435 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000599466 rs1555889069 |
438 | R>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 438 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 442 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1601070913 RCV001008738 |
447 | S>* | No |
ClinVar dbSNP |
|
| rs764707658 | 450 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs368043123 | 456 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1338478676 | 473 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 488 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 490 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 491 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 497 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 506 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 509 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1569016783 | 511 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 511 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770677266 | 517 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1009356716 RCV000489237 |
525 | N>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 531 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 538 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1307416278 | 554 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 559 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1259001599 | 559 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1457624910 | 562 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755481445 | 583 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 612 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 619 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 623 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1433173706 | 631 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750807577 RCV000523260 |
633 | S>N | No |
ClinVar dbSNP |
|
| TCGA novel | 636 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 640 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 641 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 654 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 665 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753575587 | 670 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1186529246 RCV001311993 |
675 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA dbSNP |
| rs775433680 | 695 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000522104 rs746382408 |
697 | N>K | No |
ClinVar dbSNP |
|
| rs779750227 | 706 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1457392474 | 707 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1246186475 | 713 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 732 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759902465 | 736 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs151175979 | 736 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs868690306 | 761 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277329633 RCV001311992 |
762 | D>N | No |
ClinVar dbSNP |
|
| rs747521886 | 776 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs747521886 | 777 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1271782193 RCV001200151 |
781 | S>N | No |
ClinVar dbSNP |
|
| rs898902576 | 784 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs777053418 | 792 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1423666997 | 795 | N>K | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 802 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 808 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1218921281 | 817 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 822 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 824 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749278313 | 843 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001093360 rs1001982708 |
853 | T>I | No |
ClinVar dbSNP |
1 associated diseases with Q14721
[MIM: 616056]: Developmental and epileptic encephalopathy 26 (DEE26)
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. DEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia. {ECO:0000269|PubMed:25164438, ECO:0000269|PubMed:26477325, ECO:0000269|PubMed:26503721}. 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. DEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia. {ECO:0000269|PubMed:25164438, ECO:0000269|PubMed:26477325, ECO:0000269|PubMed:26503721}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
17 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 | 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. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| 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. |
| dendrite membrane | The portion of the plasma membrane surrounding a dendrite. |
| 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). |
| 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. |
| lateral plasma membrane | The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells. |
| neuronal cell body membrane | The plasma membrane of a neuron cell body - excludes the plasma membrane of cell projections such as axons and dendrites. |
| perikaryon | The portion of the cell soma (neuronal cell body) that excludes the nucleus. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, 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. |
| postsynaptic membrane | A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. |
| proximal dendrite | The dendrite of the dendritic tree that is closest to the neuronal cell body (the soma). |
| sarcolemma | The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
| 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. |
| 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. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| protein N-terminus binding | Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| SNARE binding | Binding to a SNARE (soluble N-ethylmaleimide-sensitive factor attached protein receptor) protein. |
| transmembrane transporter binding | Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
| 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. |
23 GO annotations of biological process
| Name | Definition |
|---|---|
| action potential | A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities. |
| cellular response to calcium 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 calcium ion stimulus. |
| cellular response to glucose stimulus | 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 glucose stimulus. |
| cellular response to nutrient levels | 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 stimulus reflecting the presence, absence, or concentration of nutrients. |
| clustering of voltage-gated potassium channels | The process in which voltage-gated potassium channels become localized together in high densities. In animals, voltage-gated potassium (Kv) channels are clustered beneath the myelin sheath in regions immediately adjacent to paranodes, called juxtaparanodes, and along the inner mesaxon within the internode. |
| glucose homeostasis | Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. |
| glutamate receptor signaling pathway | The series of molecular signals initiated by the binding of glutamate to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| negative regulation of insulin secretion | Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of insulin. |
| positive regulation of calcium ion-dependent exocytosis | Any process that activates or increases the frequency, rate or extent of calcium ion-dependent exocytosis. |
| positive regulation of catecholamine secretion | Any process that activates or increases the frequency, rate or extent of the regulated release of a catecholamine. |
| positive regulation of long-term synaptic depression | Any process that activates or increases the frequency, rate or extent of long term synaptic depression. |
| positive regulation of norepinephrine secretion | Any process that increases the frequency, rate or extent of the regulated release of norepinephrine. |
| positive regulation of protein targeting to membrane | Any process that increases the frequency, rate or extent of the process of directing proteins towards a membrane, usually using signals contained within the protein. |
| 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. |
| 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 to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| regulation of action potential | Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. |
| 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. |
| regulation of motor neuron apoptotic process | Any process that modulates the frequency, rate or extent of motor neuron apoptotic process. |
| response to axon injury | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an axon injury stimulus. |
| response to L-glutamate | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an L-glutamate stimulus. |
| vesicle docking involved in exocytosis | The initial attachment of a vesicle membrane to a target membrane, mediated by proteins protruding from the membrane of the vesicle and the target membrane, that contributes to exocytosis. |
22 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q4ZHA6 | KCNB2 | Potassium voltage-gated channel subfamily B member 2 | Bos taurus (Bovine) | PR |
| P17972 | Shaw | Potassium voltage-gated channel protein Shaw | Drosophila melanogaster (Fruit fly) | 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 |
| Q9H3M0 | KCNF1 | Potassium voltage-gated channel subfamily F member 1 | Homo sapiens (Human) | PR |
| Q9ULS6 | KCNS2 | Potassium voltage-gated channel subfamily S member 2 | Homo sapiens (Human) | PR |
| Q96RP8 | KCNA7 | Potassium voltage-gated channel subfamily A member 7 | Homo sapiens (Human) | 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 |
| Q09470 | KCNA1 | Potassium voltage-gated channel subfamily A member 1 | 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 |
| Q80XM3 | Kcng4 | Potassium voltage-gated channel subfamily G member 4 | Mus musculus (Mouse) | PR |
| O35174 | Kcns2 | Potassium voltage-gated channel subfamily S member 2 | Mus musculus (Mouse) | PR |
| A6H8H5 | Kcnb2 | Potassium voltage-gated channel subfamily B member 2 | Mus musculus (Mouse) | PR |
| Q7TSH7 | Kcnf1 | Potassium voltage-gated channel subfamily F member 1 | Mus musculus (Mouse) | PR |
| Q03717 | Kcnb1 | Potassium voltage-gated channel subfamily B member 1 | Mus musculus (Mouse) | PR |
| O18868 | KCNB1 | Potassium voltage-gated channel subfamily B member 1 | Sus scrofa (Pig) | PR |
| Q9ER26 | Kcns2 | Potassium voltage-gated channel subfamily S member 2 | Rattus norvegicus (Rat) | PR |
| P15387 | Kcnb1 | Potassium voltage-gated channel subfamily B member 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPAGMTKHGS | RSTSSLPPEP | MEIVRSKACS | RRVRLNVGGL | AHEVLWRTLD | RLPRTRLGKL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RDCNTHDSLL | EVCDDYSLDD | NEYFFDRHPG | AFTSILNFYR | TGRLHMMEEM | CALSFSQELD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YWGIDEIYLE | SCCQARYHQK | KEQMNEELKR | EAETLREREG | EEFDNTCCAE | KRKKLWDLLE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KPNSSVAAKI | LAIISIMFIV | LSTIALSLNT | LPELQSLDEF | GQSTDNPQLA | HVEAVCIAWF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TMEYLLRFLS | SPKKWKFFKG | PLNAIDLLAI | LPYYVTIFLT | ESNKSVLQFQ | NVRRVVQIFR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IMRILRILKL | ARHSTGLQSL | GFTLRRSYNE | LGLLILFLAM | GIMIFSSLVF | FAEKDEDDTK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FKSIPASFWW | ATITMTTVGY | GDIYPKTLLG | KIVGGLCCIA | GVLVIALPIP | IIVNNFSEFY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KEQKRQEKAI | KRREALERAK | RNGSIVSMNM | KDAFARSIEM | MDIVVEKNGE | NMGKKDKVQD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NHLSPNKWKW | TKRTLSETSS | SKSFETKEQG | SPEKARSSSS | PQHLNVQQLE | DMYNKMAKTQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SQPILNTKES | AAQSKPKEEL | EMESIPSPVA | PLPTRTEGVI | DMRSMSSIDS | FISCATDFPE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ATRFSHSPLT | SLPSKTGGST | APEVGWRGAL | GASGGRFVEA | NPSPDASQHS | SFFIESPKSS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| MKTNNPLKLR | ALKVNFMEGD | PSPLLPVLGM | YHDPLRNRGS | AAAAVAGLEC | ATLLDKAVLS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PESSIYTTAS | AKTPPRSPEK | HTAIAFNFEA | GVHQYIDADT | DDEGQLLYSV | DSSPPKSLPG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| STSPKFSTGT | RSEKNHFESS | PLPTSPKFLR | QNCIYSTEAL | TGKGPSGQEK | CKLENHISPD |
| 850 | |||||
| VRVLPGGGAH | GSTRDQSI |