Varaico: Literature-Extracted Genetic Variants

KCNJ12

244 papers

RefSeq Summary

This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac...

Pfam Domains

IRK_Naa 2–46UCSCInward rectifier potassium channel N-terminal

IRKaa 47–187UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 194–367UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 12

HGNC Previous Symbol

KCNJN1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021012.5

p.G216D

c.647G>A

Surrounding Variants

1 paper

NM_021012.5

p.N217D

c.649A>G

1 paper

NM_021012.5

p.N217K

c.651C>A

1 paper

NM_021012.5

p.N217K

c.651C>G

9 papers

NM_021012.5

p.L211F

c.631C>T

3 papers

NM_021012.5

p.I223L

c.667A>C

1 paper

NM_021012.5

p.L209F

c.625C>T

1 paper

NM_021012.5

p.V224L

c.670G>C

1 paper

NM_021012.5

p.V224L

c.670G>T

1 paper

NM_021012.5

p.R229C

c.685C>T

1 paper

NM_021012.5

p.R229R

c.687C>T

1 paper

NM_021012.5

p.A230T

c.688G>A

1 paper

NM_021012.5

p.A200P

c.598G>C