Varaico: Literature-Extracted Genetic Variants

PRKCA

332 papers

RefSeq Summary

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide v...

Pfam Domains

C1_1aa 37–89UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

C1_1aa 102–154UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

C2aa 171–277UCSCC2 domain

Pkinaseaa 339–597UCSCProtein kinase domain

Pkinase_Caa 623–658UCSCProtein kinase C terminal domain

Gene Aliases

HGNC Name

protein kinase C alpha

HGNC Previous Symbol

PKCA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002737.3

p.R239*

c.715C>T

Surrounding Variants

3 papers

NM_002737.3

p.R238Q

c.713G>A

1 paper

NM_002737.3

p.S241F

c.722C>T

1 paper

NM_002737.3

p.S234_D235insAA

c.700_704ins6

1 paper

NM_002737.3

p.I244N

c.731T>A

2 papers

NM_002737.3

p.D246N

c.736G>A

1 paper

NM_002737.3

p.D246D

c.738C>T

1 paper

NM_002737.3

p.W247L

c.740G>T

1 paper

NM_002737.3

p.D248N

c.742G>A

1 paper

NM_002737.3

p.D248G

c.743A>G

2 papers

NM_002737.3

p.R249Q

c.746G>A

1 paper

NM_002737.3

p.T250T

c.750A>T

1 paper

NM_002737.3

p.S260F

c.779C>T