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.T360delFs

c.1080delG

Surrounding Variants

5 papers

NM_000525.4

p.A362T

c.1084G>A

1 paper

NM_000525.4

p.A362delFs

c.1085delG

3 papers

NM_000525.4

p.S363S

c.1089A>G

1 paper

NM_000525.4

p.A364_R365insG

c.1090_1094ins3

1 paper

NM_000525.4

p.A364G

c.1091C>G

3 papers

NM_000525.4

p.R365C

c.1093C>T

7 papers

NM_000525.4

p.R365H

c.1094G>A

2 papers

NM_000525.4

p.R365R

c.1095C>T

3 papers

NM_000525.4

p.G366W

c.1096G>T

1 paper

NM_000525.4

p.G366R

c.1096G>C

1 paper

NM_000525.4

p.G366R

c.1096G>A

1 paper

NM_000525.4

p.G366fs

c.1096_1097fs