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.G240R

c.718G>A

Surrounding Variants

1 paper

NM_000891.3

p.E241G

c.722A>G

5 papers

NM_000891.3

p.Y242F

c.725A>T

1 paper

NM_000891.3

p.T237I

c.710C>T

1 paper

NM_000891.3

p.R235T

c.704G>C

1 paper

NM_000891.3

p.R235*

c.703A>T

2 papers

NM_000891.3

p.D246N

c.736G>A

1 paper

NM_000891.3

p.D246Y

c.736G>T

1 paper

NM_000891.3

p.D246E

c.738T>A

1 paper

NM_000891.3

p.D246E

c.738T>G

1 paper

NM_000891.3

p.K233Q

c.697A>C

1 paper

NM_000891.3

p.L232F

c.694C>T

1 paper

NM_000891.3

p.I248T

c.743T>C