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.V7A

c.20T>C

Surrounding Variants

1 paper

NM_002241.5

p.K6N

c.18G>T

1 paper

NM_002241.5

p.K6N

c.18G>C

1 paper

NM_002241.5

p.Y8F

c.23A>T

1 paper

NM_002241.5

p.Y9F

c.26A>T

1 paper

NM_002241.5

p.S3_V4delFs

c.8_11del4

2 papers

NM_002241.5

p.V4I

c.10G>A

1 paper

NM_002241.5

p.Q11*

c.31C>T

1 paper

NM_002241.5

p.S3P

c.7T>C

1 paper

NM_002241.5

p.T2R

c.5C>G

1 paper

NM_002241.5

p.T12N

c.35C>A

1 paper

NM_002241.5

p.T2_S3insT

c.4_8ins3

2 papers

NM_002241.5

p.M1insFs

c.2dupT