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.K53E

c.157A>G

Surrounding Variants

1 paper

NM_002241.5

p.K53Q

c.157A>C

1 paper

NM_002241.5

p.K53R

c.158A>G

1 paper

NM_002241.5

p.L52R

c.155T>G

1 paper

NM_002241.5

p.R48_Y51del0

c.142_153del12

1 paper

NM_002241.5

p.L52F

c.154C>T

1 paper

NM_002241.5

p.Y51F

c.152A>T

1 paper

NM_002241.5

p.L50P

c.149T>C

3 papers

NM_002241.5

p.L50F

c.148C>T

1 paper

NM_002241.5

p.W56L

c.167G>T

1 paper

NM_002241.5

p.F49L

c.147C>G

1 paper

NM_002241.5

p.W56*

c.168G>A

17 papers

NM_002241.5

p.T57I

c.170C>T