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.G146A

c.437G>C

Surrounding Variants

10 papers

NM_000891.3

p.G146D

c.437G>A

9 papers

NM_000891.3

p.G146S

c.436G>A

4 papers

NM_000891.3

p.G146R

c.436G>C

2 papers

NM_000891.3

p.G146C

c.436G>T

2 papers

NM_000891.3

p.Y145S

c.434A>C

10 papers

NM_000891.3

p.Y145C

c.434A>G

2 papers

NM_000891.3

p.Y145F

c.434A>T

1 paper

NM_000891.3

p.F147Y

c.440T>A

4 papers

NM_000891.3

p.F147C

c.440T>G

1 paper

NM_000891.3

p.R148_C154del7

c.442_461del21

16 papers

NM_000891.3

p.G144D

c.431G>A

2 papers

NM_000891.3

p.R148K

c.443G>A