Varaico: Literature-Extracted Genetic Variants

Gene:PRKCQ
Variant:p.E308K

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.E308K
c.922G>A
Surrounding Variants
1 paper
NM_006257.5
p.D306H
c.916G>C
1 paper
NM_006257.5
p.D306N
c.916G>A
1 paper
NM_006257.5
p.R305T
c.914G>C
1 paper
NM_006257.5
p.R305G
c.913A>G
1 paper
NM_006257.5
p.F311C
c.932T>G
2 papers
NM_006257.5
p.L304S
c.911T>C
1 paper
NM_006257.5
p.R312I
c.935G>T
1 paper
NM_006257.5
p.R312K
c.935G>A
1 paper
NM_006257.5
p.C303F
c.908G>T
1 paper
NM_006257.5
p.C303Y
c.908G>A
1 paper
NM_006257.5
p.R302L
c.905G>T
1 paper
NM_006257.5
p.R302H
c.905G>A
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