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.K233Q

c.697A>C

Surrounding Variants

1 paper

NM_000891.3

p.L232F

c.694C>T

1 paper

NM_000891.3

p.R235*

c.703A>T

1 paper

NM_000891.3

p.R235T

c.704G>C

1 paper

NM_000891.3

p.Q230K

c.688C>A

1 paper

NM_000891.3

p.A229A

c.687A>G

1 paper

NM_000891.3

p.A229T

c.685G>A

1 paper

NM_000891.3

p.A229S

c.685G>T

1 paper

NM_000891.3

p.T237I

c.710C>T

12 papers

NM_000891.3

p.R228Q

c.683G>A

1 paper

NM_000891.3

p.R228G

c.682C>G

2 papers

NM_000891.3

p.R228*

c.682C>T

20 papers

NM_000891.3

p.V227F

c.679G>T