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.M218I

c.654G>C

Surrounding Variants

1 paper

NM_000890.5

p.M218I

c.654G>A

1 paper

NM_000890.5

p.M218I

c.654G>T

1 paper

NM_000890.5

p.R220W

c.658C>T

1 paper

NM_000890.5

p.R220P

c.659G>C

1 paper

NM_000890.5

p.R220L

c.659G>T

1 paper

NM_000890.5

p.V221L

c.661G>C

1 paper

NM_000890.5

p.V221L

c.661G>T

2 papers

NM_000890.5

p.G222D

c.665G>A

9 papers

NM_000890.5

p.D223N

c.667G>A

1 paper

NM_000890.5

p.E213K

c.637G>A

1 paper

NM_000890.5

p.D212E

c.636C>A

1 paper

NM_000890.5

p.D212E

c.636C>G