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

3 papers

NM_000890.5

p.R41C

c.121C>T

Surrounding Variants

1 paper

NM_000890.5

p.R41H

c.122G>A

1 paper

NM_000890.5

p.R41L

c.122G>T

4 papers

NM_000890.5

p.T40M

c.119C>T

4 papers

NM_000890.5

p.R39H

c.116G>A

1 paper

NM_000890.5

p.R39S

c.115C>A

1 paper

NM_000890.5

p.R39C

c.115C>T

1 paper

NM_000890.5

p.L43_G46delins

c.128_137delinsG

1 paper

NM_000890.5

p.T37A

c.109A>G

4 papers

NM_000890.5

p.E45K

c.133G>A

1 paper

NM_000890.5

p.E45Q

c.133G>C

1 paper

NM_000890.5

p.G46S

c.136G>A

1 paper

NM_000890.5

p.I35V

c.103A>G