Varaico: Literature-Extracted Genetic Variants

Gene:PRKCQ
Variant:p.P334L

PRKCQ

126 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

PKC_C2aa 4–113UCSCProtein kinase C delta/epsilon/eta/theta, C2 domain
PKC_C2aa 4–113UCSCProtein kinase C delta/epsilon/eta/theta, C2 domain
PKC_C2aa 4–113UCSCProtein kinase C delta/epsilon/eta/theta, C2 domain
C1_1aa 160–212UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
C1_1aa 160–212UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
C1_1aa 160–212UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

Gene Aliases

HGNC Name

protein kinase C theta

HGNC Previous Name

protein kinase C, theta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006257.5
p.P334L
c.1001C>T
Surrounding Variants
1 paper
NM_006257.5
p.L333S
c.998T>C
1 paper
NM_006257.5
p.T335K
c.1004C>A
1 paper
NM_006257.5
p.P336L
c.1007C>T
1 paper
NM_006257.5
p.P336delins
c.1006_1007delinsTT
1 paper
NM_006257.5
p.P336P
c.1008G>A
1 paper
NM_006257.5
p.G337R
c.1009G>C
1 paper
NM_006257.5
p.G337R
c.1009G>A
1 paper
NM_006257.5
p.G337E
c.1010G>A
3 papers
NM_006257.5
p.P330L
c.989C>T
1 paper
NM_006257.5
p.I324_A328del0
c.971_982del12
1 paper
NM_006257.5
p.E327K
c.979G>A
1 paper
NM_006257.5
p.N326I
c.977A>T
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