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

2 papers

NM_000890.5

p.L174M

c.520C>A

Surrounding Variants

2 papers

NM_000890.5

p.L174V

c.520C>G

1 paper

NM_000890.5

p.I173M

c.519C>G

1 paper

NM_000890.5

p.L174P

c.521T>C

1 paper

NM_000890.5

p.I173S

c.518T>G

1 paper

NM_000890.5

p.G175S

c.523G>A

2 papers

NM_000890.5

p.G175C

c.523G>T

3 papers

NM_000890.5

p.G175D

c.524G>A

2 papers

NM_000890.5

p.G175A

c.524G>C

8 papers

NM_000890.5

p.S176P

c.526T>C

1 paper

NM_000890.5

p.S176C

c.527C>G

1 paper

NM_000890.5

p.S176F

c.527C>T

1 paper

NM_000890.5

p.Q171P

c.512A>C