Varaico: Literature-Extracted Genetic Variants

Gene:HERC5
Variant:p.R4M

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.R4M
c.11G>T
Surrounding Variants
1 paper
NM_016323.4
p.R4S
c.12G>T
1 paper
NM_016323.4
p.R6L
c.17G>T
1 paper
NM_016323.4
p.E2*
c.4G>T
1 paper
NM_016323.4
p.M1I
c.3G>T
1 paper
NM_016323.4
p.R7S
c.21G>T
1 paper
NM_016323.4
p.A40S
c.118G>T
1 paper
NM_016323.4
p.E67Q
c.199G>C
1 paper
NM_016323.4
p.T87delFs
c.259_260delAC
1 paper
NM_016323.4
p.T87fs
c.259_260fs
2 papers
NM_016323.4
p.D103G
c.308A>G
1 paper
NM_016323.4
p.Q142R
c.425A>G
1 paper
NM_016323.4
p.Y148*
c.444C>A
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