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

2 papers

NM_000891.3

p.T139I

c.416C>T

Surrounding Variants

3 papers

NM_000891.3

p.Q140E

c.418C>G

1 paper

NM_000891.3

p.E138D

c.414G>C

1 paper

NM_000891.3

p.E138D

c.414G>T

1 paper

NM_000891.3

p.Q140R

c.419A>G

1 paper

NM_000891.3

p.E138V

c.413A>T

4 papers

NM_000891.3

p.E138K

c.412G>A

2 papers

NM_000891.3

p.E138Q

c.412G>C

1 paper

NM_000891.3

p.T141P

c.421A>C

8 papers

NM_000891.3

p.T141A

c.421A>G

2 papers

NM_000891.3

p.T141S

c.421A>T

2 papers

NM_000891.3

p.T141K

c.422C>A

1 paper

NM_000891.3

p.T141R

c.422C>G