Varaico: Literature-Extracted Genetic Variants

Gene:PRKCQ
Variant:p.V31G

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.V31G
c.92T>G
Surrounding Variants
2 papers
NM_006257.5
p.V33I
c.97G>A
1 paper
NM_006257.5
p.V33G
c.98T>G
1 paper
NM_006257.5
p.C29Y
c.86G>A
1 paper
NM_006257.5
p.Y28S
c.83A>C
2 papers
NM_006257.5
p.P27L
c.80C>T
1 paper
NM_006257.5
p.P27delins
c.79_80delinsTT
1 paper
NM_006257.5
p.E35D
c.105G>T
1 paper
NM_006257.5
p.E35D
c.105G>C
1 paper
NM_006257.5
p.Y36C
c.107A>G
1 paper
NM_006257.5
p.V25L
c.73G>C
1 paper
NM_006257.5
p.E38K
c.112G>A
2 papers
NM_006257.5
p.E23K
c.67G>A
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