Varaico: Literature-Extracted Genetic Variants

Gene:HERC4
Variant:p.V105M

HERC4

46 papers

RefSeq Summary

HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze th...

Pfam Domains

WD40_RLDaa 1–375UCSCRCC1-like domain
HECTaa 759–1057UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

HECT and RLD domain containing E3 ubiquitin protein ligase 4

HGNC Alias Symbols

DKFZP564G092; KIAA1593

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015601.4
p.V105M
c.313G>A
Surrounding Variants
1 paper
NM_015601.4
p.A88P
c.262G>C
1 paper
NM_015601.4
p.L152F
c.454C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."