Varaico: Literature-Extracted Genetic Variants

KCNJ2

812 papers

RefSeq Summary

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rec...

Pfam Domains

IRK_Naa 1–47UCSCInward rectifier potassium channel N-terminal

IRKaa 48–186UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 193–366UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 2

HGNC Alias Symbols

Kir2.1; IRK1; LQT7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000891.3

p.E15Q

c.43G>C

Surrounding Variants

1 paper

NM_000891.3

p.E15delFs

c.44delA

3 papers

NM_000891.3

p.E16G

c.47A>G

1 paper

NM_000891.3

p.E16D

c.48A>C

1 paper

NM_000891.3

p.E16D

c.48A>T

1 paper

NM_000891.3

p.D17N

c.49G>A

1 paper

NM_000891.3

p.D17H

c.49G>C

1 paper

NM_000891.3

p.D17G

c.50A>G

1 paper

NM_000891.3

p.G18S

c.52G>A

1 paper

NM_000891.3

p.G18R

c.52G>C

1 paper

NM_000891.3

p.G18C

c.52G>T

1 paper

NM_000891.3

p.M19V

c.55A>G

1 paper

NM_000891.3

p.S10G

c.28A>G