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.H324R

c.971A>G

Surrounding Variants

5 papers

NM_000891.3

p.R325C

c.973C>T

5 papers

NM_000891.3

p.R325H

c.974G>A

1 paper

NM_000891.3

p.G323A

c.968G>C

9 papers

NM_000891.3

p.W322C

c.966G>C

9 papers

NM_000891.3

p.W322C

c.966G>T

4 papers

NM_000891.3

p.Y326N

c.976T>A

1 paper

NM_000891.3

p.E327K

c.979G>A

1 paper

NM_000891.3

p.L321Q

c.962T>A

1 paper

NM_000891.3

p.V329L

c.985G>C

1 paper

NM_000891.3

p.V329L

c.985G>T

2 papers

NM_000891.3

p.E319A

c.956A>C

1 paper

NM_000891.3

p.V329E

c.986T>A