Varaico: Literature-Extracted Genetic Variants

Gene:PRKCA
Variant:p.D463H

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
18 papers
NM_002737.3
p.D463H
c.1387G>C
Surrounding Variants
5 papers
NM_002737.3
p.D463N
c.1387G>A
4 papers
NM_002737.3
p.D463A
c.1388A>C
1 paper
NM_002737.3
p.D467N
c.1399G>A
1 paper
NM_002737.3
p.N468S
c.1403A>G
1 paper
NM_002737.3
p.N468I
c.1403A>T
2 papers
NM_002737.3
p.V469I
c.1405G>A
1 paper
NM_002737.3
p.M470I
c.1410G>A
1 paper
NM_002737.3
p.M470I
c.1410G>C
1 paper
NM_002737.3
p.M470I
c.1410G>T
1 paper
NM_002737.3
p.D472N
c.1414G>A
1 paper
NM_002737.3
p.S473A
c.1417T>G
1 paper
NM_002737.3
p.H476R
c.1427A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."