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.I170V

c.508A>G

Surrounding Variants

1 paper

NM_000891.3

p.I170M

c.510C>G

1 paper

NM_000891.3

p.C169S

c.506G>C

2 papers

NM_000891.3

p.I171L

c.511A>C

1 paper

NM_000891.3

p.I171V

c.511A>G

1 paper

NM_000891.3

p.C169S

c.505T>A

1 paper

NM_000891.3

p.I171insFs

c.512_513insGC

1 paper

NM_000891.3

p.G168A

c.503G>C

99 papers

NM_000891.3

p.D172N

c.514G>A

2 papers

NM_000891.3

p.G168R

c.502G>C

2 papers

NM_000891.3

p.D172H

c.514G>C

1 paper

NM_000891.3

p.G168C

c.502G>T

4 papers

NM_000891.3

p.D172A

c.515A>C