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

21 papers

NM_000891.3

p.N216H

c.646A>C

Surrounding Variants

9 papers

NM_000891.3

p.N216D

c.646A>G

1 paper

NM_000891.3

p.N216Y

c.646A>T

1 paper

NM_000891.3

p.N216I

c.647A>T

19 papers

NM_000891.3

p.G215D

c.644G>A

1 paper

NM_000891.3

p.R228ins10

c.683_684ins30

10 papers

NM_000891.3

p.L217P

c.650T>C

82 papers

NM_000891.3

p.R218W

c.652C>T

55 papers

NM_000891.3

p.R218Q

c.653G>A

4 papers

NM_000891.3

p.R218P

c.653G>C

6 papers

NM_000891.3

p.R218L

c.653G>T

4 papers

NM_000891.3

p.R213Q

c.638G>A

2 papers

NM_000891.3

p.K219Q

c.655A>C