Varaico: Literature-Extracted Genetic Variants

Gene:PRKCE
Variant:p.P229H

PRKCE

136 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

C2aa 6–119UCSCC2 domain
C1_1aa 170–223UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
C1_1aa 243–295UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
Pkinaseaa 408–668UCSCProtein kinase domain
Pkinase_Caa 689–730UCSCProtein kinase C terminal domain

Gene Aliases

HGNC Name

protein kinase C epsilon

HGNC Previous Name

protein kinase C, epsilon

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005400.3
p.P229H
c.686C>A
Surrounding Variants
1 paper
NM_005400.3
p.T218T
c.654A>T
1 paper
NM_005400.3
p.Q197P
c.590A>C
1 paper
NM_005400.3
p.W191Splc
c.573-26T>A
1 paper
NM_005400.3
p.F189Y
c.566T>A
1 paper
NM_005400.3
p.N168N
c.504C>T
1 paper
NM_005400.3
p.V164G
c.491T>G
1 paper
NM_005400.3
p.A159V
c.476C>T
1 paper
NM_005400.3
p.R156G
c.466C>G
1 paper
NM_005400.3
p.R150H
c.449G>A
1 paper
NM_005400.3
p.E149K
c.445G>A
1 paper
NM_005400.3
p.F147delFs
c.439delT
1 paper
NM_005400.3
p.E143K
c.427G>A
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