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.K47N

c.141G>T

Surrounding Variants

1 paper

NM_002241.5

p.K47N

c.141G>C

2 papers

NM_002241.5

p.R48C

c.142C>T

1 paper

NM_002241.5

p.R48P

c.143G>C

1 paper

NM_002241.5

p.R48H

c.143G>A

1 paper

NM_002241.5

p.D46N

c.136G>A

1 paper

NM_002241.5

p.F49L

c.147C>G

3 papers

NM_002241.5

p.L50F

c.148C>T

1 paper

NM_002241.5

p.L50P

c.149T>C

1 paper

NM_002241.5

p.A45T

c.133G>A

1 paper

NM_002241.5

p.Y51F

c.152A>T

1 paper

NM_002241.5

p.H43_I44insFs

c.129_130insC

1 paper

NM_002241.5

p.L52F

c.154C>T