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.M77T

c.230T>C

Surrounding Variants

1 paper

NM_000525.4

p.F75_M77delFs

c.225_229del5

1 paper

NM_000525.4

p.M77I

c.231G>A

1 paper

NM_000525.4

p.T76delFs

c.228delG

1 paper

NM_000525.4

p.T76fs

c.226_227fs

5 papers

NM_000525.4

p.F75Y

c.224T>A

2 papers

NM_000525.4

p.I74I

c.222C>A

1 paper

NM_000525.4

p.C81_S82insA

c.241_245ins3

1 paper

NM_000525.4

p.C81R

c.241T>C

1 paper

NM_000525.4

p.L80delFs

c.240delC

1 paper

NM_000525.4

p.C81insFs

c.242dupG

1 paper

NM_000525.4

p.L72L

c.216G>A

1 paper

NM_000525.4

p.S82I

c.245G>T