Varaico: Literature-Extracted Genetic Variants

Gene:HERC5
Variant:p.G199R

HERC5

69 papers

RefSeq Summary

This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endotheli...

Pfam Domains

WD40_RLDaa 130–373UCSCRCC1-like domain
HECTaa 731–1024UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

HECT and RLD domain containing E3 ubiquitin protein ligase 5

HGNC Alias Symbol

CEB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016323.4
p.G199R
c.595G>C
Surrounding Variants
1 paper
NM_016323.4
p.G199R
c.595G>A
1 paper
NM_016323.4
p.S207F
c.620C>T
1 paper
NM_016323.4
p.C220R
c.658T>C
1 paper
NM_016323.4
p.E229G
c.686A>G
1 paper
NM_016323.4
p.L240P
c.719T>C
1 paper
NM_016323.4
p.E246G
c.737A>G
1 paper
NM_016323.4
p.T259_Q260del2
c.775_779del6
1 paper
NM_016323.4
p.S279L
c.836C>T
1 paper
NM_016323.4
p.A290T
c.868G>A
1 paper
NM_016323.4
p.A301T
c.901G>A
2 papers
NM_016323.4
p.C302S
c.904T>A
2 papers
NM_016323.4
p.C302S
c.905G>C
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