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.K34N

c.102G>T

Surrounding Variants

1 paper

NM_000891.3

p.K34N

c.102G>C

2 papers

NM_000891.3

p.K34R

c.101A>G

1 paper

NM_000891.3

p.S35G

c.103A>G

1 paper

NM_000891.3

p.K34M

c.101A>T

1 paper

NM_000891.3

p.K34insFs

c.100_101insC

1 paper

NM_000891.3

p.K34E

c.100A>G

1 paper

NM_000891.3

p.K34*

c.100A>T

1 paper

NM_000891.3

p.S35T

c.104G>C

1 paper

NM_000891.3

p.K34delFs

c.100delA

1 paper

NM_000891.3

p.G33R

c.97G>A

1 paper

NM_000891.3

p.G33R

c.97G>C

1 paper

NM_000891.3

p.V37I

c.109G>A