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

6 papers

NM_000891.3

p.R40Q

c.119G>A

Surrounding Variants

3 papers

NM_000891.3

p.R40P

c.119G>C

6 papers

NM_000891.3

p.R40*

c.118C>T

1 paper

NM_000891.3

p.T39I

c.116C>T

3 papers

NM_000891.3

p.C43S

c.127T>A

1 paper

NM_000891.3

p.C43R

c.127T>C

1 paper

NM_000891.3

p.C43Y

c.128G>A

2 papers

NM_000891.3

p.C43S

c.128G>C

2 papers

NM_000891.3

p.C43W

c.129C>G

1 paper

NM_000891.3

p.V37I

c.109G>A

1 paper

NM_000891.3

p.S45N

c.134G>A

1 paper

NM_000891.3

p.S35T

c.104G>C

1 paper

NM_000891.3

p.S35G

c.103A>G