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

12 papers

NM_000890.5

p.I229L

c.685A>C

Surrounding Variants

1 paper

NM_000890.5

p.H228Q

c.684C>A

1 paper

NM_000890.5

p.H228Q

c.684C>G

1 paper

NM_000890.5

p.I229M

c.687C>G

1 paper

NM_000890.5

p.H228N

c.682C>A

2 papers

NM_000890.5

p.E231Q

c.691G>C

2 papers

NM_000890.5

p.N226K

c.678C>A

2 papers

NM_000890.5

p.N226K

c.678C>G

1 paper

NM_000890.5

p.A232T

c.694G>A

1 paper

NM_000890.5

p.A232V

c.695C>T

1 paper

NM_000890.5

p.R225H

c.674G>A

1 paper

NM_000890.5

p.R225C

c.673C>T

1 paper

NM_000890.5

p.S233A

c.697T>G