Varaico: Literature-Extracted Genetic Variants

Gene:PRKCD
Variant:p.Q191*

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
3 papers
NM_006254.4
p.Q191*
c.571C>T
Surrounding Variants
1 paper
NM_006254.4
p.Q191insFs
c.571_572ins25
1 paper
NM_006254.4
p.Q191insFs
c.571_572ins29
1 paper
NM_006254.4
p.C189Y
c.566G>A
1 paper
NM_006254.4
p.C189R
c.565T>C
1 paper
NM_006254.4
p.Y187C
c.560A>G
1 paper
NM_006254.4
p.Y187F
c.560A>T
1 paper
NM_006254.4
p.N183K
c.549C>A
1 paper
NM_006254.4
p.N183K
c.549C>G
1 paper
NM_006254.4
p.Q191Splc
c.571+51G>A
1 paper
NM_006254.4
p.V179A
c.536T>C
1 paper
NM_006254.4
p.C172Y
c.515G>A
2 papers
NM_006254.4
p.T170I
c.509C>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."