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.M71I

c.213G>T

Surrounding Variants

10 papers

NM_021012.5

p.M71I

c.213G>A

8 papers

NM_021012.5

p.M71I

c.213G>C

2 papers

NM_021012.5

p.T74A

c.220A>G

1 paper

NM_021012.5

p.C75Y

c.224G>A

1 paper

NM_021012.5

p.D77V

c.230A>T

1 paper

NM_021012.5

p.R79P

c.236G>C

2 papers

NM_021012.5

p.R81P

c.242G>C

2 papers

NM_021012.5

p.A58T

c.172G>A

1 paper

NM_021012.5

p.I86I

c.258C>A

5 papers

NM_021012.5

p.E56A

c.167A>C

2 papers

NM_021012.5

p.Q52R

c.155A>G

1 paper

NM_021012.5

p.Q52L

c.155A>T