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

1–12 of 114 variants

23 papers

NM_015981.4

p.T286A

c.856A>G

19 papers

NM_015981.4

p.E183V

c.548A>T

9 papers

NM_015981.4

p.P212L

c.635C>T

7 papers

NM_015981.4

p.E109D

c.327G>T

7 papers

NM_015981.4

p.E109D

c.327G>C

7 papers

NM_015981.4

p.P212Q

c.635C>A

7 papers

NM_015981.4

p.H282R

c.845A>G

7 papers

NM_015981.4

p.T306A

c.916A>G

6 papers

NM_015981.4

p.K42R

c.125A>G

6 papers

NM_015981.4

p.P235L

c.704C>T

5 papers

NM_015981.4

p.K42M

c.125A>T

5 papers

NM_015981.4

p.F98S

c.293T>C