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.E177A

c.530A>C

Surrounding Variants

6 papers

NM_002241.5

p.E177G

c.530A>G

1 paper

NM_002241.5

p.E177Q

c.529G>C

1 paper

NM_002241.5

p.T178I

c.533C>T

1 paper

NM_002241.5

p.T178_I179insFs

c.532_535dup4

1 paper

NM_002241.5

p.I179N

c.536T>A

30 papers

NM_002241.5

p.R175Q

c.524G>A

2 papers

NM_002241.5

p.R175W

c.523C>T

1 paper

NM_002241.5

p.R175G

c.523C>G

1 paper

NM_002241.5

p.K174N

c.522G>T

1 paper

NM_002241.5

p.K174N

c.522G>C

1 paper

NM_002241.5

p.R180C

c.538C>T

3 papers

NM_002241.5

p.R180H

c.539G>A