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.G105A

c.314G>C

Surrounding Variants

1 paper

NM_000890.5

p.G105D

c.314G>A

2 papers

NM_000890.5

p.G105S

c.313G>A

1 paper

NM_000890.5

p.F106L

c.316T>C

1 paper

NM_000890.5

p.F104S

c.311T>C

1 paper

NM_000890.5

p.F104C

c.311T>G

1 paper

NM_000890.5

p.F106L

c.318C>A

1 paper

NM_000890.5

p.F106L

c.318C>G

1 paper

NM_000890.5

p.F103_G105del0

c.308_313del6

1 paper

NM_000890.5

p.W108R

c.322T>A

1 paper

NM_000890.5

p.L102Q

c.305T>A

1 paper

NM_000890.5

p.L102_F106del0

c.306_317del12

5 papers

NM_000890.5

p.W101C

c.303G>C