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.V86F

c.256G>T

Surrounding Variants

1 paper

NM_000891.3

p.V86I

c.256G>A

1 paper

NM_000891.3

p.I87V

c.259A>G

1 paper

NM_000891.3

p.M84I

c.252G>A

1 paper

NM_000891.3

p.M84I

c.252G>C

1 paper

NM_000891.3

p.M84I

c.252G>T

5 papers

NM_000891.3

p.M84K

c.251T>A

1 paper

NM_000891.3

p.M84R

c.251T>G

2 papers

NM_000891.3

p.F88L

c.262T>C

1 paper

NM_000891.3

p.F88V

c.262T>G

1 paper

NM_000891.3

p.F88S

c.263T>C

2 papers

NM_000891.3

p.F88L

c.264C>A

2 papers

NM_000891.3

p.F88L

c.264C>G