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.T305A

c.913A>G

Surrounding Variants

7 papers

NM_000891.3

p.T305P

c.913A>C

7 papers

NM_000891.3

p.T305S

c.913A>T

7 papers

NM_000891.3

p.T305S

c.914C>G

2 papers

NM_000891.3

p.T305I

c.914C>T

1 paper

NM_000891.3

p.A306T

c.916G>A

1 paper

NM_000891.3

p.A306S

c.916G>T

1 paper

NM_000891.3

p.E303D

c.909A>C

1 paper

NM_000891.3

p.E303D

c.909A>T

2 papers

NM_000891.3

p.A306G

c.917C>G

1 paper

NM_000891.3

p.A306V

c.917C>T

2 papers

NM_000891.3

p.M307L

c.919A>C

11 papers

NM_000891.3

p.M307V

c.919A>G