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.Q332E

c.994C>G

Surrounding Variants

1 paper

NM_002241.5

p.Q332K

c.994C>A

1 paper

NM_002241.5

p.D331H

c.991G>C

4 papers

NM_002241.5

p.V333A

c.998T>C

14 papers

NM_002241.5

p.L329P

c.986T>C

1 paper

NM_002241.5

p.S328R

c.984C>G

1 paper

NM_002241.5

p.S328R

c.984C>A

1 paper

NM_002241.5

p.K335I

c.1004A>T

1 paper

NM_002241.5

p.S328T

c.983G>C

2 papers

NM_002241.5

p.V336L

c.1006G>T

2 papers

NM_002241.5

p.V336L

c.1006G>C

2 papers

NM_002241.5

p.V336M

c.1006G>A

1 paper

NM_002241.5

p.S328G

c.982A>G