Varaico: Literature-Extracted Genetic Variants

CAMK2A

172 papers

RefSeq Summary

The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of p...

Pfam Domains

Pkinaseaa 13–271UCSCProtein kinase domain

CaMKII_ADaa 346–473UCSCCalcium/calmodulin dependent protein kinase II association domain

Gene Aliases

HGNC Name

calcium/calmodulin dependent protein kinase II alpha

HGNC Previous Symbol

CAMKA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_015981.4

p.Y222*

c.666C>G

Surrounding Variants

2 papers

NM_015981.4

p.Y222*

c.666C>A

9 papers

NM_015981.4

p.P212L

c.635C>T

7 papers

NM_015981.4

p.P212Q

c.635C>A

1 paper

NM_015981.4

p.G209G

c.627G>A

1 paper

NM_015981.4

p.I202M

c.606C>G

1 paper

NM_015981.4

p.V184G

c.551T>G

19 papers

NM_015981.4

p.E183V

c.548A>T

1 paper

NM_015981.4

p.P182delFs

c.544delG

1 paper

NM_015981.4

p.L180F

c.538C>T

1 paper

NM_015981.4

p.G175A

c.524G>C

1 paper

NM_015981.4

p.P233L

c.698C>T

1 paper

NM_015981.4

p.S234S

c.702G>A