Varaico: Literature-Extracted Genetic Variants

Gene:PRKCH
Variant:p.Q61H

PRKCH

121 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 10–124UCSCC2 domain
C1_1aa 172–225UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
C1_1aa 246–298UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
Pkinaseaa 355–614UCSCProtein kinase domain
Pkinase_Caa 635–676UCSCProtein kinase C terminal domain

Gene Aliases

HGNC Name

protein kinase C eta

HGNC Previous Symbol

PRKCL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006255.5
p.Q61H
c.183G>T
Surrounding Variants
1 paper
NM_006255.5
p.Q61H
c.183G>C
1 paper
NM_006255.5
p.Q61R
c.182A>G
1 paper
NM_006255.5
p.Q61L
c.182A>T
2 papers
NM_006255.5
p.K65R
c.194A>G
1 paper
NM_006255.5
p.G55A
c.164G>C
1 paper
NM_006255.5
p.V49V
c.147G>A
1 paper
NM_006255.5
p.A85T
c.253G>A
1 paper
NM_006255.5
p.H88P
c.263A>C
1 paper
NM_006255.5
p.D95D
c.285C>T
1 paper
NM_006255.5
p.Q23*
c.67C>T
5 papers
NM_006255.5
p.A19V
c.56C>T
1 paper
NM_006255.5
p.A19T
c.55G>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."