Varaico: Literature-Extracted Genetic Variants

Gene:PRKCQ
Variant:p.Q43R

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.Q43R
c.128A>G
Surrounding Variants
1 paper
NM_006257.5
p.G42E
c.125G>A
1 paper
NM_006257.5
p.G42R
c.124G>C
1 paper
NM_006257.5
p.G42R
c.124G>A
1 paper
NM_006257.5
p.N41S
c.122A>G
1 paper
NM_006257.5
p.N41Y
c.121A>T
1 paper
NM_006257.5
p.I46F
c.136A>T
1 paper
NM_006257.5
p.I46N
c.137T>A
1 paper
NM_006257.5
p.I46M
c.138C>G
1 paper
NM_006257.5
p.P54T
c.160C>A
1 paper
NM_006257.5
p.W56R
c.166T>C
1 paper
NM_006257.5
p.W56R
c.166T>A
1 paper
NM_006257.5
p.D61H
c.181G>C
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