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.E359K

c.1075G>A

Surrounding Variants

1 paper

NM_002241.5

p.S360L

c.1079C>T

1 paper

NM_002241.5

p.L361L

c.1081T>C

1 paper

NM_002241.5

p.K356N

c.1068G>T

1 paper

NM_002241.5

p.K356N

c.1068G>C

5 papers

NM_002241.5

p.K354R

c.1061A>G

1 paper

NM_002241.5

p.Q364Q

c.1092A>G

1 paper

NM_002241.5

p.E353K

c.1057G>A

1 paper

NM_002241.5

p.A365G

c.1094C>G

3 papers

NM_002241.5

p.P352T

c.1054C>A

1 paper

NM_002241.5

p.D351D

c.1053C>T

1 paper

NM_002241.5

p.D351E

c.1053C>G

1 paper

NM_002241.5

p.D351E

c.1053C>A