Varaico: Literature-Extracted Genetic Variants

Gene:PRKCQ
Variant:p.Q21*

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.Q21*
c.61C>T
Surrounding Variants
1 paper
NM_006257.5
p.Q21H
c.63G>T
1 paper
NM_006257.5
p.Q21H
c.63G>C
1 paper
NM_006257.5
p.G22S
c.64G>A
2 papers
NM_006257.5
p.E23K
c.67G>A
1 paper
NM_006257.5
p.C17S
c.50G>C
1 paper
NM_006257.5
p.C17S
c.49T>A
1 paper
NM_006257.5
p.V25L
c.73G>C
1 paper
NM_006257.5
p.S16F
c.47C>T
1 paper
NM_006257.5
p.S16A
c.46T>G
1 paper
NM_006257.5
p.G15R
c.43G>C
1 paper
NM_006257.5
p.G15R
c.43G>A
2 papers
NM_006257.5
p.P27L
c.80C>T
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