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

3 papers

NM_021012.5

p.M302I

c.906G>A

Surrounding Variants

3 papers

NM_021012.5

p.M302I

c.906G>C

3 papers

NM_021012.5

p.M302I

c.906G>T

1 paper

NM_021012.5

p.V303M

c.907G>A

1 paper

NM_021012.5

p.E300A

c.899A>C

6 papers

NM_021012.5

p.V297I

c.889G>A

1 paper

NM_021012.5

p.T309N

c.926C>A

1 paper

NM_021012.5

p.T309I

c.926C>T

1 paper

NM_021012.5

p.D292G

c.875A>G

5 papers

NM_021012.5

p.T290M

c.869C>T

7 papers

NM_021012.5

p.E289Q

c.865G>C

1 paper

NM_021012.5

p.R285L

c.854G>T

1 paper

NM_021012.5

p.I283V

c.847A>G