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

65 papers

NM_000890.5

p.E145Q

c.433G>C

Surrounding Variants

16 papers

NM_000890.5

p.E145K

c.433G>A

2 papers

NM_000890.5

p.I144_E147delins

c.432_439delinsCA

3 papers

NM_000890.5

p.I144V

c.430A>G

1 paper

NM_000890.5

p.T146N

c.437C>A

7 papers

NM_000890.5

p.S143F

c.428C>T

1 paper

NM_000890.5

p.E147K

c.439G>A

9 papers

NM_000890.5

p.E147Q

c.439G>C

1 paper

NM_000890.5

p.E147_T148del1

c.440_442delAAA

41 papers

NM_000890.5

p.S143T

c.427T>A

3 papers

NM_000890.5

p.E145ins2

c.433_434ins6

6 papers

NM_000890.5

p.T149ins1

c.446_447insAAC

2 papers

NM_000890.5

p.I150ins3

c.448_449ins9