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.K335E

c.1003A>G

Surrounding Variants

1 paper

NM_021012.5

p.E333*

c.997G>T

7 papers

NM_021012.5

p.E334del1

c.1000_1001delGAG

1 paper

NM_021012.5

p.I340T

c.1019T>C

11 papers

NM_021012.5

p.S343L

c.1028C>T

1 paper

NM_021012.5

p.F345I

c.1033T>A

1 paper

NM_021012.5

p.H346R

c.1037A>G

1 paper

NM_021012.5

p.Y349*

c.1047T>A

1 paper

NM_021012.5

p.Y349*

c.1047T>G

1 paper

NM_021012.5

p.T354M

c.1061C>T

1 paper

NM_021012.5

p.A359V

c.1076C>T

1 paper

NM_021012.5

p.K360T

c.1079A>C

1 paper

NM_021012.5

p.T309N

c.926C>A