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.R54G

c.160C>G

Surrounding Variants

10 papers

NM_000525.4

p.R54C

c.160C>T

1 paper

NM_000525.4

p.R54L

c.161G>T

5 papers

NM_000525.4

p.R54H

c.161G>A

6 papers

NM_000525.4

p.G53V

c.158G>T

1 paper

NM_000525.4

p.G53A

c.158G>C

52 papers

NM_000525.4

p.G53D

c.158G>A

12 papers

NM_000525.4

p.F55L

c.163T>C

1 paper

NM_000525.4

p.F55I

c.163T>A

2 papers

NM_000525.4

p.G53C

c.157G>T

43 papers

NM_000525.4

p.G53R

c.157G>C

38 papers

NM_000525.4

p.G53S

c.157G>A

1 paper

NM_000525.4

p.F55S

c.164T>C