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

6 papers

NM_015981.4

p.K42R

c.125A>G

Surrounding Variants

5 papers

NM_015981.4

p.K42M

c.125A>T

1 paper

NM_015981.4

p.A40D

c.119C>A

1 paper

NM_015981.4

p.A35D

c.104C>A

1 paper

NM_015981.4

p.V33G

c.98T>G

2 papers

NM_015981.4

p.R28*

c.82C>T

2 papers

NM_015981.4

p.S25L

c.74C>T

3 papers

NM_015981.4

p.G22delFs

c.65delC

2 papers

NM_015981.4

p.G22fs

c.64_65fs

1 paper

NM_015981.4

p.E58*

c.172G>T