Varaico: Literature-Extracted Genetic Variants

Gene:PRKCQ
Variant:p.R312K

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.R312K
c.935G>A
Surrounding Variants
1 paper
NM_006257.5
p.R312I
c.935G>T
1 paper
NM_006257.5
p.F311C
c.932T>G
1 paper
NM_006257.5
p.G314C
c.940G>T
1 paper
NM_006257.5
p.P315L
c.944C>T
1 paper
NM_006257.5
p.E308K
c.922G>A
1 paper
NM_006257.5
p.E317K
c.949G>A
1 paper
NM_006257.5
p.I318V
c.952A>G
1 paper
NM_006257.5
p.I318N
c.953T>A
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.G319D
c.956G>A
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