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.F133C

c.398T>G

Surrounding Variants

1 paper

NM_000525.4

p.F133Y

c.398T>A

1 paper

NM_000525.4

p.F133V

c.397T>G

1 paper

NM_000525.4

p.G134R

c.400G>C

1 paper

NM_000525.4

p.G134R

c.400G>A

1 paper

NM_000525.4

p.G132fs

c.394_395fs

6 papers

NM_000525.4

p.G134A

c.401G>C

1 paper

NM_000525.4

p.G132A

c.395G>C

1 paper

NM_000525.4

p.G132D

c.395G>A

1 paper

NM_000525.4

p.I131ins0

c.391_393dupATT

2 papers

NM_000525.4

p.T130_I131insFs

c.390_393dup4

13 papers

NM_000525.4

p.G132S

c.394G>A

1 paper

NM_000525.4

p.I131M

c.393T>G