Varaico: Literature-Extracted Genetic Variants

Gene:PRKCQ
Variant:p.M530T

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.M530T
c.1589T>C
Surrounding Variants
1 paper
NM_006257.5
p.L531I
c.1591T>A
1 paper
NM_006257.5
p.N529D
c.1585A>G
1 paper
NM_006257.5
p.E528K
c.1582G>A
1 paper
NM_006257.5
p.D533H
c.1597G>C
2 papers
NM_006257.5
p.D533G
c.1598A>G
4 papers
NM_006257.5
p.D533E
c.1599T>G
4 papers
NM_006257.5
p.D533E
c.1599T>A
1 paper
NM_006257.5
p.C526*
c.1578C>A
1 paper
NM_006257.5
p.G524V
c.1571G>T
1 paper
NM_006257.5
p.T536M
c.1607C>T
1 paper
NM_006257.5
p.T538A
c.1612A>G
1 paper
NM_006257.5
p.T538N
c.1613C>A
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