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.V109M

c.325G>A

Surrounding Variants

1 paper

NM_002241.5

p.V109fs

c.325_326fs

1 paper

NM_002241.5

p.V109fs

c.325_326fs

1 paper

NM_002241.5

p.C108S

c.323G>C

2 papers

NM_002241.5

p.P107_C108delFs

c.321_322delAG

1 paper

NM_002241.5

p.C108S

c.322T>A

1 paper

NM_002241.5

p.P107R

c.320C>G

1 paper

NM_002241.5

p.P107H

c.320C>A

1 paper

NM_002241.5

p.Q111E

c.331C>G

1 paper

NM_002241.5

p.V112L

c.334G>T

1 paper

NM_002241.5

p.V112L

c.334G>C

1 paper

NM_002241.5

p.V112M

c.334G>A

2 papers

NM_002241.5

p.V112G

c.335T>G