Varaico: Literature-Extracted Genetic Variants

Gene:PRKCQ
Variant:p.D561N

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.D561N
c.1681G>A
Surrounding Variants
1 paper
NM_006257.5
p.S564F
c.1691C>T
1 paper
NM_006257.5
p.N557K
c.1671C>G
1 paper
NM_006257.5
p.N557K
c.1671C>A
1 paper
NM_006257.5
p.G566R
c.1696G>C
1 paper
NM_006257.5
p.G566R
c.1696G>A
1 paper
NM_006257.5
p.G566E
c.1697G>A
1 paper
NM_006257.5
p.L569F
c.1705C>T
1 paper
NM_006257.5
p.L551F
c.1653G>T
1 paper
NM_006257.5
p.L551F
c.1653G>C
1 paper
NM_006257.5
p.E571K
c.1711G>A
1 paper
NM_006257.5
p.E571G
c.1712A>G
1 paper
NM_006257.5
p.I550N
c.1649T>A
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