Varaico: Literature-Extracted Genetic Variants

Gene:PRKCQ
Variant:p.S577L

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.S577L
c.1730C>T
Surrounding Variants
1 paper
NM_006257.5
p.P578S
c.1732C>T
1 paper
NM_006257.5
p.G575C
c.1723G>T
1 paper
NM_006257.5
p.H580L
c.1739A>T
1 paper
NM_006257.5
p.G581R
c.1741G>C
1 paper
NM_006257.5
p.G581R
c.1741G>A
1 paper
NM_006257.5
p.L573M
c.1717C>A
1 paper
NM_006257.5
p.M572T
c.1715T>C
1 paper
NM_006257.5
p.D583Y
c.1747G>T
1 paper
NM_006257.5
p.D583N
c.1747G>A
1 paper
NM_006257.5
p.E571G
c.1712A>G
1 paper
NM_006257.5
p.E571K
c.1711G>A
1 paper
NM_006257.5
p.E584K
c.1750G>A
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