Varaico: Literature-Extracted Genetic Variants

Gene:HERC5
Variant:p.F770L

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.F770L
c.2308T>C
Surrounding Variants
1 paper
NM_016323.4
p.F770L
c.2310T>A
1 paper
NM_016323.4
p.F770L
c.2310T>G
1 paper
NM_016323.4
p.F768L
c.2304C>A
1 paper
NM_016323.4
p.F768L
c.2304C>G
1 paper
NM_016323.4
p.F768L
c.2302T>C
1 paper
NM_016323.4
p.L776F
c.2326C>T
1 paper
NM_016323.4
p.S777F
c.2330C>T
1 paper
NM_016323.4
p.G750R
c.2248G>A
1 paper
NM_016323.4
p.P740L
c.2219C>T
1 paper
NM_016323.4
p.L695F
c.2085G>T
1 paper
NM_016323.4
p.A676S
c.2026G>T
1 paper
NM_016323.4
p.N843N
c.2529C>T
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