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.E198K

c.592G>A

Surrounding Variants

1 paper

NM_000890.5

p.A197V

c.590C>T

1 paper

NM_000890.5

p.R196I

c.587G>T

1 paper

NM_000890.5

p.M201V

c.601A>G

1 paper

NM_000890.5

p.M201ins2

c.602_603ins6

1 paper

NM_000890.5

p.S203Y

c.608C>A

1 paper

NM_000890.5

p.Q192R

c.575A>G

1 paper

NM_000890.5

p.S191T

c.572G>C

1 paper

NM_000890.5

p.S191G

c.571A>G

1 paper

NM_000890.5

p.S191C

c.571A>T

1 paper

NM_000890.5

p.I190T

c.569T>C

2 papers

NM_000890.5

p.A206T

c.616G>A

1 paper

NM_000890.5

p.A206P

c.616G>C