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.V244G

c.731T>G

Surrounding Variants

1 paper

NM_000525.4

p.G245C

c.733G>T

1 paper

NM_000525.4

p.G245R

c.733G>C

1 paper

NM_000525.4

p.N242N

c.726C>T

1 paper

NM_000525.4

p.N242S

c.725A>G

1 paper

NM_000525.4

p.N247D

c.739A>G

1 paper

NM_000525.4

p.E241K

c.721G>A

1 paper

NM_000525.4

p.M240R

c.719T>G

1 paper

NM_000525.4

p.F250C

c.749T>G

1 paper

NM_000525.4

p.F250S

c.749T>C

1 paper

NM_000525.4

p.D237D

c.711C>T

1 paper

NM_000525.4

p.L251delFs

c.751delG

7 papers

NM_000525.4

p.V252L

c.754G>T