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

1–12 of 448 variants

43 papers

NM_002241.5

p.R65P

c.194G>C

35 papers

NM_002241.5

p.R271C

c.811C>T

34 papers

NM_002241.5

p.R297C

c.889C>T

33 papers

NM_002241.5

p.A167V

c.500C>T

31 papers

NM_002241.5

p.G77R

c.229G>C

31 papers

NM_002241.5

p.C140R

c.418T>C

30 papers

NM_002241.5

p.R175Q

c.524G>A

28 papers

NM_002241.5

p.R18Q

c.53G>A

28 papers

NM_002241.5

p.R199*

c.595C>T

25 papers

NM_002241.5

p.T164I

c.491C>T

22 papers

NM_002241.5

p.R65C

c.193C>T

21 papers

NM_002241.5

p.V84M

c.250G>A