Varaico: Literature-Extracted Genetic Variants

KCNJ10

350 papers

RefSeq Summary

This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded pr...

Pfam Domains

IRKaa 31–172UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 179–349UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 10

HGNC Alias Symbols

Kir4.1; Kir1.2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002241.5

p.T12N

c.35C>A

Surrounding Variants

1 paper

NM_002241.5

p.T12delFs

c.35delG

1 paper

NM_002241.5

p.T13T

c.39T>A

1 paper

NM_002241.5

p.Q11*

c.31C>T

1 paper

NM_002241.5

p.Y9F

c.26A>T

1 paper

NM_002241.5

p.T15T

c.45A>T

1 paper

NM_002241.5

p.Y8F

c.23A>T

1 paper

NM_002241.5

p.E16D

c.48A>T

1 paper

NM_002241.5

p.E16D

c.48A>C

1 paper

NM_002241.5

p.V7A

c.20T>C

1 paper

NM_002241.5

p.K6N

c.18G>T

1 paper

NM_002241.5

p.K6N

c.18G>C

4 papers

NM_002241.5

p.R18W

c.52C>T