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

50 papers

NM_000525.4

p.C42R

c.124T>C

Surrounding Variants

2 papers

NM_000525.4

p.C42S

c.124T>A

1 paper

NM_000525.4

p.C42S

c.125G>C

1 paper

NM_000525.4

p.C42Y

c.125G>A

1 paper

NM_000525.4

p.N41K

c.123C>G

1 paper

NM_000525.4

p.N41K

c.123C>A

1 paper

NM_000525.4

p.C42*

c.126C>A

1 paper

NM_000525.4

p.G40G

c.120C>A

3 papers

NM_000525.4

p.G40A

c.119G>C

8 papers

NM_000525.4

p.G40D

c.119G>A

3 papers

NM_000525.4

p.V44M

c.130G>A

1 paper

NM_000525.4

p.K39del1

c.115_116delTTT

1 paper

NM_000525.4

p.V44A

c.131T>C