Varaico: Literature-Extracted Genetic Variants

Gene:PRKCD
Variant:p.R449H

PRKCD

259 papers

RefSeq Summary

The protein encoded by this gene is a member of the protein kinase C family of serine- and threonine-specific protein kinases. The encoded protein is activated by diacylglycerol and is both a tumor su...

Pfam Domains

PKC_C2aa 4–112UCSCProtein kinase C delta/epsilon/eta/theta, C2 domain
C1_1aa 159–211UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
C1_1aa 231–283UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
Pkinaseaa 349–603UCSCProtein kinase domain
Pkinase_Caa 624–665UCSCProtein kinase C terminal domain

Gene Aliases

HGNC Name

protein kinase C delta

HGNC Previous Name

protein kinase C, delta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006254.4
p.R449H
c.1346G>A
Surrounding Variants
1 paper
NM_006254.4
p.R449P
c.1346G>C
2 papers
NM_006254.4
p.R449C
c.1345C>T
2 papers
NM_006254.4
p.A450T
c.1348G>A
1 paper
NM_006254.4
p.T451insFs
c.1352_1353ins4
7 papers
NM_006254.4
p.T451Splc
c.1352+1G>A
2 papers
NM_006254.4
p.T451Splc
c.1352+4C>T
1 paper
NM_006254.4
p.F445Y
c.1334T>A
1 paper
NM_006254.4
p.D441N
c.1321G>A
1 paper
NM_006254.4
p.H438R
c.1313A>G
1 paper
NM_006254.4
p.M436I
c.1308G>A
1 paper
NM_006254.4
p.M436I
c.1308G>C
1 paper
NM_006254.4
p.M436I
c.1308G>T
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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."