Varaico: Literature-Extracted Genetic Variants

Gene:PRKCQ
Variant:p.K604E

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.K604E
c.1810A>G
Surrounding Variants
1 paper
NM_006257.5
p.K604R
c.1811A>G
1 paper
NM_006257.5
p.R600L
c.1799G>T
2 papers
NM_006257.5
p.R600W
c.1798C>T
1 paper
NM_006257.5
p.F597L
c.1791T>G
1 paper
NM_006257.5
p.L610P
c.1829T>C
1 paper
NM_006257.5
p.F597L
c.1791T>A
1 paper
NM_006257.5
p.F597L
c.1789T>C
1 paper
NM_006257.5
p.K612R
c.1835A>G
1 paper
NM_006257.5
p.K612N
c.1836G>T
1 paper
NM_006257.5
p.K612N
c.1836G>C
1 paper
NM_006257.5
p.D594G
c.1781A>G
3 papers
NM_006257.5
p.D594N
c.1780G>A
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