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

1 paper

NM_015981.4

p.L252P

c.755T>C

Surrounding Variants

1 paper

NM_015981.4

p.N255D

c.763A>G

1 paper

NM_015981.4

p.D246Y

c.736G>T

1 paper

NM_015981.4

p.R259C

c.775C>T

1 paper

NM_015981.4

p.R259H

c.776G>A

1 paper

NM_015981.4

p.A262T

c.784G>A

1 paper

NM_015981.4

p.P242L

c.725C>T

1 paper

NM_015981.4

p.A262_E264del0

c.785_790del6

1 paper

NM_015981.4

p.W237fs

c.709_710fs

6 papers

NM_015981.4

p.P235L

c.704C>T

1 paper

NM_015981.4

p.S234S

c.702G>A

1 paper

NM_015981.4

p.W270*

c.809G>A

1 paper

NM_015981.4

p.W270*

c.810G>A