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.P172L

c.515C>T

Surrounding Variants

11 papers

NM_002241.5

p.R171Q

c.512G>A

4 papers

NM_002241.5

p.R171W

c.511C>T

1 paper

NM_002241.5

p.K174T

c.521A>C

1 paper

NM_002241.5

p.K174N

c.522G>T

1 paper

NM_002241.5

p.K174N

c.522G>C

1 paper

NM_002241.5

p.A170T

c.508G>A

2 papers

NM_002241.5

p.R175W

c.523C>T

1 paper

NM_002241.5

p.R175G

c.523C>G

2 papers

NM_002241.5

p.I169T

c.506T>C

30 papers

NM_002241.5

p.R175Q

c.524G>A

1 paper

NM_002241.5

p.K168N

c.504G>T

2 papers

NM_002241.5

p.K168_I169insFs

c.504_505ins4