Varaico: Literature-Extracted Genetic Variants

Gene:HERC3
Variant:p.V551A

HERC3

50 papers

RefSeq Summary

This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with color...

Pfam Domains

WD40_RLDaa 1–376UCSCRCC1-like domain
HECTaa 744–1042UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

HECT and RLD domain containing E3 ubiquitin protein ligase 3

HGNC Alias Symbol

KIAA0032

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014606.3
p.V551A
c.1652T>C
Surrounding Variants
1 paper
NM_014606.3
p.V567L
c.1699G>C
1 paper
NM_014606.3
p.P528P
c.1584C>T
1 paper
NM_014606.3
p.T463N
c.1388C>A
1 paper
NM_014606.3
p.W436S
c.1307G>C
1 paper
NM_014606.3
p.Q673fs
c.2017_2018fs
1 paper
NM_014606.3
p.S415A
c.1243T>G
1 paper
NM_014606.3
p.Q684*
c.2050C>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."