Varaico: Literature-Extracted Genetic Variants

Gene:HERC5
Variant:p.N843N

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.N843N
c.2529C>T
Surrounding Variants
1 paper
NM_016323.4
p.N850S
c.2549A>G
1 paper
NM_016323.4
p.K878E
c.2632A>G
1 paper
NM_016323.4
p.K890T
c.2669A>C
1 paper
NM_016323.4
p.E903K
c.2707G>A
1 paper
NM_016323.4
p.T913K
c.2738C>A
1 paper
NM_016323.4
p.V938V
c.2814G>A
1 paper
NM_016323.4
p.S1004S
c.3012T>C
1 paper
NM_016323.4
p.V1009A
c.3026T>C
1 paper
NM_016323.4
p.A1012V
c.3035C>T
1 paper
NM_016323.4
p.S777F
c.2330C>T
1 paper
NM_016323.4
p.L776F
c.2326C>T
1 paper
NM_016323.4
p.F770L
c.2310T>A
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