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

1 paper

NM_000890.5

p.E288D

c.864G>C

Surrounding Variants

1 paper

NM_000890.5

p.E288E

c.864G>A

1 paper

NM_000890.5

p.E288D

c.864G>T

1 paper

NM_000890.5

p.E288G

c.863A>G

1 paper

NM_000890.5

p.E288K

c.862G>A

1 paper

NM_000890.5

p.M289T

c.866T>C

1 paper

NM_000890.5

p.W287C

c.861G>C

1 paper

NM_000890.5

p.W287C

c.861G>T

1 paper

NM_000890.5

p.W287L

c.860G>T

1 paper

NM_000890.5

p.P285R

c.854C>G

1 paper

NM_000890.5

p.P285T

c.853C>A

1 paper

NM_000890.5

p.Q293R

c.878A>G

70 papers

NM_000890.5

p.H295R

c.884A>G