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

8 papers

NM_021012.5

p.E239K

c.715G>A

Surrounding Variants

1 paper

NM_021012.5

p.E239G

c.716A>G

1 paper

NM_021012.5

p.R236W

c.706C>T

1 paper

NM_021012.5

p.L246Q

c.737T>A

1 paper

NM_021012.5

p.A230T

c.688G>A

1 paper

NM_021012.5

p.R229R

c.687C>T

5 papers

NM_021012.5

p.I249V

c.745A>G

1 paper

NM_021012.5

p.R229C

c.685C>T

2 papers

NM_021012.5

p.D252N

c.754G>A

1 paper

NM_021012.5

p.V253fs

c.757_758fs

1 paper

NM_021012.5

p.V253A

c.758T>C

1 paper

NM_021012.5

p.V224L

c.670G>C

1 paper

NM_021012.5

p.V224L

c.670G>T