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.R375H

c.1124G>A

Surrounding Variants

3 papers

NM_002241.5

p.R375C

c.1123C>T

1 paper

NM_002241.5

p.G369D

c.1106G>A

1 paper

NM_002241.5

p.G369S

c.1105G>A

1 paper

NM_002241.5

p.E368V

c.1103A>T

1 paper

NM_002241.5

p.E368Q

c.1102G>C

1 paper

NM_002241.5

p.A365G

c.1094C>G

1 paper

NM_002241.5

p.Q364Q

c.1092A>G

1 paper

NM_002241.5

p.L361L

c.1081T>C

1 paper

NM_002241.5

p.S360L

c.1079C>T

1 paper

NM_002241.5

p.E359K

c.1075G>A

1 paper

NM_002241.5

p.K356N

c.1068G>T

1 paper

NM_002241.5

p.K356N

c.1068G>C