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.R314H

c.941G>A

Surrounding Variants

5 papers

NM_000525.4

p.R314C

c.940C>T

1 paper

NM_000525.4

p.F315L

c.943T>C

1 paper

NM_000525.4

p.F315I

c.943T>A

1 paper

NM_000525.4

p.F315C

c.944T>G

2 papers

NM_000525.4

p.F315S

c.944T>C

1 paper

NM_000525.4

p.F315L

c.945T>G

1 paper

NM_000525.4

p.F315L

c.945T>A

1 paper

NM_000525.4

p.G312V

c.935G>T

1 paper

NM_000525.4

p.G312D

c.935G>A

1 paper

NM_000525.4

p.G312C

c.934G>T

2 papers

NM_000525.4

p.G312S

c.934G>A

1 paper

NM_000525.4

p.P317fs

c.949_950fs