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.E179G

c.536A>G

Surrounding Variants

11 papers

NM_000525.4

p.E179A

c.536A>C

4 papers

NM_000525.4

p.E179Q

c.535G>C

5 papers

NM_000525.4

p.E179K

c.535G>A

1 paper

NM_000525.4

p.A178A

c.534T>G

2 papers

NM_000525.4

p.T180A

c.538A>G

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.A178D

c.533C>A

1 paper

NM_000525.4

p.A178delFs

c.532delC

1 paper

NM_000525.4

p.A178S

c.532G>T

1 paper

NM_000525.4

p.E179_T180delFs

c.536_539del4

1 paper

NM_000525.4

p.L181F

c.541C>T