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

2 papers

NM_000525.4

p.S372S

c.1116C>T

Surrounding Variants

1 paper

NM_000525.4

p.S372R

c.1116C>G

1 paper

NM_000525.4

p.S372R

c.1116C>A

5 papers

NM_000525.4

p.V373M

c.1117G>A

1 paper

NM_000525.4

p.S372R

c.1114A>C

1 paper

NM_000525.4

p.R371_S372insFs

c.1113_1114insT

6 papers

NM_000525.4

p.R371H

c.1112G>A

1 paper

NM_000525.4

p.P374S

c.1120C>T

1 paper

NM_000525.4

p.V373delFs

c.1117_1118delAC

1 paper

NM_000525.4

p.K370N

c.1110G>T

1 paper

NM_000525.4

p.K370N

c.1110G>C

1 paper

NM_000525.4

p.M375V

c.1123A>G

1 paper

NM_000525.4

p.K370R

c.1109A>G