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.E55_H63delFs

c.165_187del23

Surrounding Variants

1 paper

NM_000890.5

p.E55K

c.163G>A

1 paper

NM_000890.5

p.M54L

c.160A>C

1 paper

NM_000890.5

p.M54L

c.160A>T

1 paper

NM_000890.5

p.K56N

c.168G>C

1 paper

NM_000890.5

p.K56N

c.168G>T

2 papers

NM_000890.5

p.Y53F

c.158A>T

1 paper

NM_000890.5

p.S57T

c.170G>C

6 papers

NM_000890.5

p.S57S

c.171T>C

1 paper

NM_000890.5

p.G58S

c.172G>A

24 papers

NM_000890.5

p.R52H

c.155G>A

1 paper

NM_000890.5

p.R52C

c.154C>T

1 paper

NM_000890.5

p.K59Q

c.175A>C