Varaico: Literature-Extracted Genetic Variants

KCNJ5

663 papers

RefSeq Summary

This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a s...

Pfam Domains

IRKaa 54–193UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 200–372UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 5

HGNC Alias Symbols

Kir3.4; KATP1; GIRK4; LQT13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

28 papers

NM_000890.5

p.G247R

c.739G>C

Surrounding Variants

28 papers

NM_000890.5

p.G247R

c.739G>A

1 paper

NM_000890.5

p.E246D

c.738G>C

1 paper

NM_000890.5

p.E246D

c.738G>T

14 papers

NM_000890.5

p.E246G

c.737A>G

22 papers

NM_000890.5

p.E246K

c.736G>A

1 paper

NM_000890.5

p.E248V

c.743A>T

1 paper

NM_000890.5

p.T244insFs

c.730_731insT

1 paper

NM_000890.5

p.I250F

c.748A>T

1 paper

NM_000890.5

p.Q243H

c.729G>C

1 paper

NM_000890.5

p.Q243H

c.729G>T

1 paper

NM_000890.5

p.I250M

c.750C>G

4 papers

NM_000890.5

p.R242Q

c.725G>A