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.W108R

c.322T>A

Surrounding Variants

1 paper

NM_000890.5

p.W109R

c.325T>A

1 paper

NM_000890.5

p.W109R

c.325T>C

1 paper

NM_000890.5

p.F106L

c.318C>A

1 paper

NM_000890.5

p.F106L

c.318C>G

1 paper

NM_000890.5

p.W109*

c.326G>A

1 paper

NM_000890.5

p.W109*

c.327G>A

1 paper

NM_000890.5

p.L110V

c.328C>G

1 paper

NM_000890.5

p.F106L

c.316T>C

1 paper

NM_000890.5

p.G105D

c.314G>A

1 paper

NM_000890.5

p.G105A

c.314G>C

2 papers

NM_000890.5

p.G105S

c.313G>A

1 paper

NM_000890.5

p.F104S

c.311T>C