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

61 papers

NM_000525.4

p.E227K

c.679G>A

Surrounding Variants

1 paper

NM_000525.4

p.E227*

c.679G>T

1 paper

NM_000525.4

p.E227Q

c.679G>C

2 papers

NM_000525.4

p.E227V

c.680A>T

1 paper

NM_000525.4

p.E227G

c.680A>G

2 papers

NM_000525.4

p.E227A

c.680A>C

1 paper

NM_000525.4

p.E227delins

c.679_680delinsCT

3 papers

NM_000525.4

p.P226L

c.677C>T

2 papers

NM_000525.4

p.G228A

c.683G>C

3 papers

NM_000525.4

p.G228D

c.683G>A

1 paper

NM_000525.4

p.S225R

c.675C>G

1 paper

NM_000525.4

p.S225R

c.675C>A

1 paper

NM_000525.4

p.S225insFs

c.674_675ins8