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

11 papers

NM_000891.3

p.N318S

c.953A>G

Surrounding Variants

2 papers

NM_000891.3

p.E319A

c.956A>C

1 paper

NM_000891.3

p.A317T

c.949G>A

1 paper

NM_000891.3

p.L316V

c.946C>G

3 papers

NM_000891.3

p.Y315S

c.944A>C

3 papers

NM_000891.3

p.Y315C

c.944A>G

1 paper

NM_000891.3

p.L321Q

c.962T>A

3 papers

NM_000891.3

p.S314F

c.941C>T

9 papers

NM_000891.3

p.W322C

c.966G>C

9 papers

NM_000891.3

p.W322C

c.966G>T

3 papers

NM_000891.3

p.S314A

c.940T>G

1 paper

NM_000891.3

p.S314_Y315del0

c.940_945del6

1 paper

NM_000891.3

p.G323A

c.968G>C