Varaico: Literature-Extracted Genetic Variants

Gene:PRKCB
Variant:p.Y417H

PRKCB

289 papers

RefSeq Summary

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide varie...

Pfam Domains

C1_1aa 37–89UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
C1_1aa 102–154UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
C2aa 171–277UCSCC2 domain
Pkinaseaa 342–600UCSCProtein kinase domain
Pkinase_Caa 622–662UCSCProtein kinase C terminal domain
Pkinase_Caa 622–662UCSCProtein kinase C terminal domain

Gene Aliases

HGNC Name

protein kinase C beta

HGNC Previous Symbols

PRKCB2; PKCB; PRKCB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002738.7
p.Y417H
c.1249T>C
Surrounding Variants
1 paper
NM_002738.7
p.R415S
c.1243C>A
1 paper
NM_002738.7
p.Y422C
c.1265A>G
1 paper
NM_002738.7
p.V423M
c.1267G>A
1 paper
NM_002738.7
p.V423V
c.1269G>A
1 paper
NM_002738.7
p.G426S
c.1276G>A
2 papers
NM_002738.7
p.G426R
c.1276G>C
1 paper
NM_002738.7
p.G426D
c.1277G>A
13 papers
NM_002738.7
p.D427N
c.1279G>A
1 paper
NM_002738.7
p.D427G
c.1280A>G
1 paper
NM_002738.7
p.Q433R
c.1298A>G
1 paper
NM_002738.7
p.Q433H
c.1299G>C
1 paper
NM_002738.7
p.Q433H
c.1299G>T
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