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

34 papers

NM_000891.3

p.R67Q

c.200G>A

Surrounding Variants

1 paper

NM_000891.3

p.R67G

c.199C>G

69 papers

NM_000891.3

p.R67W

c.199C>T

1 paper

NM_000891.3

p.Q66H

c.198A>T

9 papers

NM_000891.3

p.Y68D

c.202T>G

2 papers

NM_000891.3

p.L69I

c.205C>A

1 paper

NM_000891.3

p.G65R

c.193G>A

1 paper

NM_000891.3

p.G65R

c.193G>C

3 papers

NM_000891.3

p.A70T

c.208G>A

1 paper

NM_000891.3

p.A70P

c.208G>C

6 papers

NM_000891.3

p.A70S

c.208G>T

3 papers

NM_000891.3

p.A70V

c.209C>T

18 papers

NM_000891.3

p.D71N

c.211G>A