Varaico: Literature-Extracted Genetic Variants

Gene:HERC5
Variant:p.M498V

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
3 papers
NM_016323.4
p.M498V
c.1492A>G
Surrounding Variants
1 paper
NM_016323.4
p.S507N
c.1520G>A
1 paper
NM_016323.4
p.T538I
c.1613C>T
1 paper
NM_016323.4
p.A561S
c.1681G>T
1 paper
NM_016323.4
p.V396I
c.1186G>A
1 paper
NM_016323.4
p.P389A
c.1165C>G
1 paper
NM_016323.4
p.T356I
c.1067C>T
1 paper
NM_016323.4
p.L340I
c.1018C>A
1 paper
NM_016323.4
p.F318fs
c.952_953fs
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