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

144 papers

NM_000890.5

p.T158A

c.472A>G

Surrounding Variants

1 paper

NM_000890.5

p.T158S

c.472A>T

1 paper

NM_000890.5

p.T158R

c.473C>G

46 papers

NM_000890.5

p.I157S

c.470T>G

4 papers

NM_000890.5

p.I157delins

c.470_471delinsAA

2 papers

NM_000890.5

p.E159Q

c.475G>C

1 paper

NM_000890.5

p.E159G

c.476A>G

1 paper

NM_000890.5

p.I157_K160del0

c.470_478del9

1 paper

NM_000890.5

p.E159_K160ins1

c.477_478insATT

1 paper

NM_000890.5

p.V156I

c.466G>A

27 papers

NM_000890.5

p.I157del1

c.469_470delATC

2 papers

NM_000890.5

p.R155Q

c.464G>A

1 paper

NM_000890.5

p.K160K

c.480G>A