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

32 papers

NM_000525.4

p.I182V

c.544A>G

Surrounding Variants

4 papers

NM_000525.4

p.I182L

c.544A>C

6 papers

NM_000525.4

p.I182T

c.545T>C

1 paper

NM_000525.4

p.I182I

c.546C>A

1 paper

NM_000525.4

p.L181F

c.541C>T

1 paper

NM_000525.4

p.F183C

c.548T>G

1 paper

NM_000525.4

p.E179_T180delFs

c.536_539del4

1 paper

NM_000525.4

p.T180I

c.539C>T

2 papers

NM_000525.4

p.T180N

c.539C>A

1 paper

NM_000525.4

p.S184C

c.550A>T

2 papers

NM_000525.4

p.T180A

c.538A>G

1 paper

NM_000525.4

p.E179G

c.536A>G

11 papers

NM_000525.4

p.E179A

c.536A>C