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.V394A

c.1181T>C

Surrounding Variants

2 papers

NM_000891.3

p.S397N

c.1190G>A

1 paper

NM_000891.3

p.S390I

c.1169G>T

1 paper

NM_000891.3

p.S399G

c.1195A>G

1 paper

NM_000891.3

p.D389G

c.1166A>G

1 paper

NM_000891.3

p.S399N

c.1196G>A

1 paper

NM_000891.3

p.S399T

c.1196G>C

2 papers

NM_000891.3

p.D389N

c.1165G>A

1 paper

NM_000891.3

p.D389H

c.1165G>C

1 paper

NM_000891.3

p.T400A

c.1198A>G

1 paper

NM_000891.3

p.D388G

c.1163A>G

1 paper

NM_000891.3

p.T400R

c.1199C>G

10 papers

NM_000891.3

p.T400M

c.1199C>T