Varaico: Literature-Extracted Genetic Variants

Gene:PRKCI
Variant:p.V473Splc

PRKCI

174 papers

RefSeq Summary

This gene encodes a member of the protein kinase C (PKC) family of serine/threonine protein kinases. The PKC family comprises at least eight members, which are differentially expressed and are involve...

Pfam Domains

PB1aa 25–107UCSCPB1 domain
C1_1aa 141–193UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
Pkinaseaa 254–522UCSCProtein kinase domain
Pkinase_Caa 543–584UCSCProtein kinase C terminal domain

Gene Aliases

HGNC Name

protein kinase C iota

HGNC Previous Symbol

DXS1179E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002740.6
p.V473Splc
c.1418-141G>A
Surrounding Variants
1 paper
NM_002740.6
p.R480S
c.1438C>A
14 papers
NM_002740.6
p.R480C
c.1438C>T
2 papers
NM_002740.6
p.R480H
c.1439G>A
1 paper
NM_002740.6
p.I481T
c.1442T>C
1 paper
NM_002740.6
p.P482Q
c.1445C>A
1 paper
NM_002740.6
p.L485M
c.1453C>A
1 paper
NM_002740.6
p.K499_D500Splc
c.1498-3T>C
1 paper
NM_002740.6
p.K499_D500Splc
c.1498-1G>T
1 paper
NM_002740.6
p.E503K
c.1507G>A
1 paper
NM_002740.6
p.E503G
c.1508A>G
2 papers
NM_002740.6
p.R504Q
c.1511G>A
1 paper
NM_002740.6
p.G512E
c.1535G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."