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.D31N

c.91G>A

Surrounding Variants

2 papers

NM_000890.5

p.R30H

c.89G>A

1 paper

NM_000890.5

p.R30C

c.88C>T

1 paper

NM_000890.5

p.Y32D

c.94T>G

2 papers

NM_000890.5

p.Y32F

c.95A>T

1 paper

NM_000890.5

p.A29D

c.86C>A

1 paper

NM_000890.5

p.Q28R

c.83A>G

1 paper

NM_000890.5

p.K27K

c.81A>G

1 paper

NM_000890.5

p.I35V

c.103A>G

1 paper

NM_000890.5

p.P26L

c.77C>T

1 paper

NM_000890.5

p.I25I

c.75T>A

1 paper

NM_000890.5

p.I25N

c.74T>A

1 paper

NM_000890.5

p.T37A

c.109A>G