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.G117C

c.349G>T

Surrounding Variants

4 papers

NM_021012.5

p.R118Q

c.353G>A

1 paper

NM_021012.5

p.R118delins

c.353_354delinsAC

1 paper

NM_021012.5

p.A115D

c.344C>A

1 paper

NM_021012.5

p.R118R

c.354G>C

1 paper

NM_021012.5

p.P122S

c.364C>T

2 papers

NM_021012.5

p.D111delFs

c.333delC

2 papers

NM_021012.5

p.Q126E

c.376C>G

1 paper

NM_021012.5

p.Q126*

c.376C>T

2 papers

NM_021012.5

p.F102Y

c.305T>A

5 papers

NM_021012.5

p.I100V

c.298A>G

1 paper

NM_021012.5

p.I138F

c.412A>T

16 papers

NM_021012.5

p.E139K

c.415G>A