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.K207Q

c.619A>C

Surrounding Variants

1 paper

NM_000891.3

p.G206G

c.618C>A

5 papers

NM_000891.3

p.G206S

c.616G>A

1 paper

NM_000891.3

p.D205E

c.615C>A

1 paper

NM_000891.3

p.D205E

c.615C>G

1 paper

NM_000891.3

p.L208Q

c.623T>A

1 paper

NM_000891.3

p.D205G

c.614A>G

2 papers

NM_000891.3

p.C209S

c.625T>A

1 paper

NM_000891.3

p.C209Y

c.626G>A

2 papers

NM_000891.3

p.C209S

c.626G>C

1 paper

NM_000891.3

p.M203V

c.607A>G

1 paper

NM_000891.3

p.A202A

c.606C>G

1 paper

NM_000891.3

p.A202V

c.605C>T