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.E131K

c.391G>A

Surrounding Variants

1 paper

NM_000890.5

p.E131Q

c.391G>C

1 paper

NM_000890.5

p.V130L

c.388G>C

1 paper

NM_000890.5

p.L133F

c.397C>T

1 paper

NM_000890.5

p.C129R

c.385T>C

1 paper

NM_000890.5

p.P128L

c.383C>T

21 papers

NM_000890.5

p.W126R

c.376T>A

21 papers

NM_000890.5

p.W126R

c.376T>C

1 paper

NM_000890.5

p.F136L

c.406T>C

1 paper

NM_000890.5

p.E125D

c.375G>C

1 paper

NM_000890.5

p.E125D

c.375G>T

1 paper

NM_000890.5

p.F136S

c.407T>C

1 paper

NM_000890.5

p.E125delFs

c.375delG