Varaico: Literature-Extracted Genetic Variants

Gene:HECTD3
Variant:p.A816T

HECTD3

77 papers

RefSeq Summary

The protein encoded by this gene transfers ubiquitin from an E2 ubiquitin-conjugating enzyme to targeted substrates, leading to the degradation of those substrates. The encoded protein has been shown ...

Pfam Domains

ANAPC10aa 232–393UCSCAnaphase-promoting complex, subunit 10 (APC10)
HECTaa 566–852UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

HECT domain E3 ubiquitin protein ligase 3

HGNC Alias Symbol

FLJ21156

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_024602.6
p.A816T
c.2446G>A
Surrounding Variants
1 paper
NM_024602.6
p.K836R
c.2507A>G
1 paper
NM_024602.6
p.A845V
c.2534C>T
1 paper
NM_024602.6
p.V850M
c.2548G>A
1 paper
NM_024602.6
p.V850E
c.2549T>A
1 paper
NM_024602.6
p.D853A
c.2558A>C
1 paper
NM_024602.6
p.D855A
c.2564A>C
1 paper
NM_024602.6
p.P765Q
c.2294C>A
1 paper
NM_024602.6
p.E764K
c.2290G>A
1 paper
NM_024602.6
p.E761Q
c.2281G>C
1 paper
NM_024602.6
p.E748Q
c.2242G>C
1 paper
NM_024602.6
p.K724M
c.2171A>T
1 paper
NM_024602.6
p.R696H
c.2087G>A
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