Varaico: Literature-Extracted Genetic Variants

KCNJ11

1,240 papers

RefSeq Summary

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rec...

Pfam Domains

IRKaa 1–87UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 94–267UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 11

HGNC Alias Symbols

Kir6.2; BIR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000525.4

p.P380L

c.1139C>T

Surrounding Variants

1 paper

NM_000525.4

p.P380delFs

c.1138delG

1 paper

NM_000525.4

p.K379insFs

c.1136_1137insT

3 papers

NM_000525.4

p.K381K

c.1143G>A

1 paper

NM_000525.4

p.P380_K381ins0

c.1138_1143dup6

3 papers

NM_000525.4

p.A378V

c.1133C>T

1 paper

NM_000525.4

p.S383delFs

c.1148_1149delGC

2 papers

NM_000525.4

p.A376S

c.1126G>T

2 papers

NM_000525.4

p.S385A

c.1153T>G

3 papers

NM_000525.4

p.S385F

c.1154C>T

18 papers

NM_000525.4

p.S385C

c.1154C>G

1 paper

NM_000525.4

p.M375V

c.1123A>G

1 paper

NM_000525.4

p.P374S

c.1120C>T