Varaico: Literature-Extracted Genetic Variants

Gene:HERC3
Variant:p.L130*

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.L130*
c.389T>G
Surrounding Variants
1 paper
NM_014606.3
p.L130*
c.389T>A
1 paper
NM_014606.3
p.I131M
c.393A>G
1 paper
NM_014606.3
p.L207V
c.619C>G
1 paper
NM_014606.3
p.L105P
c.314T>C
2 papers
NM_014606.3
p.E93D
c.279G>C
2 papers
NM_014606.3
p.E93D
c.279G>T
1 paper
NM_014606.3
p.K259_S260Splc
c.778-53G>C
3 papers
NM_014606.3
p.P340T
c.1018C>A
1 paper
NM_014606.3
p.R358H
c.1073G>A
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