Varaico: Literature-Extracted Genetic Variants

Gene:PRKCI
Variant:p.R126H

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.R126H
c.377G>A
Surrounding Variants
2 papers
NM_002740.6
p.R126S
c.376C>A
1 paper
NM_002740.6
p.R126C
c.376C>T
2 papers
NM_002740.6
p.R127K
c.380G>A
2 papers
NM_002740.6
p.I124V
c.370A>G
5 papers
NM_002740.6
p.R130C
c.388C>T
1 paper
NM_002740.6
p.K122R
c.365A>G
4 papers
NM_002740.6
p.R130H
c.389G>A
1 paper
NM_002740.6
p.W132C
c.396G>C
1 paper
NM_002740.6
p.W132C
c.396G>T
2 papers
NM_002740.6
p.Y136C
c.407A>G
1 paper
NM_002740.6
p.K122Splc
c.365-109T>C
2 papers
NM_002740.6
p.R151H
c.452G>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."