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

2 papers

NM_000890.5

p.D117E

c.351C>G

Surrounding Variants

1 paper

NM_000890.5

p.D117E

c.351C>A

1 paper

NM_000890.5

p.L118V

c.352C>G

1 paper

NM_000890.5

p.L118P

c.353T>C

1 paper

NM_000890.5

p.D119G

c.356A>G

1 paper

NM_000890.5

p.G116S

c.346G>A

1 paper

NM_000890.5

p.R115Q

c.344G>A

14 papers

NM_000890.5

p.R115W

c.343C>T

1 paper

NM_000890.5

p.I114M

c.342C>G

2 papers

NM_000890.5

p.H120Q

c.360T>A

2 papers

NM_000890.5

p.H120Q

c.360T>G

1 paper

NM_000890.5

p.V121I

c.361G>A

1 paper

NM_000890.5

p.V121A

c.362T>C