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

2 papers

NM_002241.5

p.V186A

c.557T>C

Surrounding Variants

1 paper

NM_002241.5

p.V186F

c.556G>T

2 papers

NM_002241.5

p.A185E

c.554C>A

1 paper

NM_002241.5

p.H184Q

c.552T>G

1 paper

NM_002241.5

p.H184Q

c.552T>A

1 paper

NM_002241.5

p.A188S

c.562G>T

1 paper

NM_002241.5

p.H190R

c.569A>G

1 paper

NM_002241.5

p.H190delFs

c.568delG

2 papers

NM_002241.5

p.F181L

c.543C>G

2 papers

NM_002241.5

p.F181L

c.543C>A

2 papers

NM_002241.5

p.F181L

c.541T>C

3 papers

NM_002241.5

p.R180H

c.539G>A

1 paper

NM_002241.5

p.R180C

c.538C>T