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.L169F

c.507G>T

Surrounding Variants

1 paper

NM_000890.5

p.L169F

c.507G>C

1 paper

NM_000890.5

p.V170F

c.508G>T

3 papers

NM_000890.5

p.L169S

c.506T>C

2 papers

NM_000890.5

p.L169V

c.505T>G

182 papers

NM_000890.5

p.L168R

c.503T>G

1 paper

NM_000890.5

p.Q171P

c.512A>C

1 paper

NM_000890.5

p.L168V

c.502C>G

1 paper

NM_000890.5

p.L168F

c.502C>T

1 paper

NM_000890.5

p.L168fs

c.502_503fs

1 paper

NM_000890.5

p.I166V

c.496A>G

1 paper

NM_000890.5

p.I173S

c.518T>G

1 paper

NM_000890.5

p.I173M

c.519C>G