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

4 papers

NM_002241.5

p.E274delFs

c.822delC

Surrounding Variants

7 papers

NM_002241.5

p.G275fs

c.823_824fs

1 paper

NM_002241.5

p.D276V

c.827A>T

1 paper

NM_002241.5

p.D276G

c.827A>G

2 papers

NM_002241.5

p.F277L

c.829T>C

1 paper

NM_002241.5

p.E274G

c.821A>G

1 paper

NM_002241.5

p.F277S

c.830T>C

1 paper

NM_002241.5

p.F277L

c.831T>G

1 paper

NM_002241.5

p.F277L

c.831T>A

1 paper

NM_002241.5

p.G273V

c.818G>T

1 paper

NM_002241.5

p.E278K

c.832G>A

1 paper

NM_002241.5

p.G273C

c.817G>T

1 paper

NM_002241.5

p.L279M

c.835C>A