Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_024602.6

p.E748Q

c.2242G>C

Surrounding Variants

1 paper

NM_024602.6

p.K724M

c.2171A>T

1 paper

NM_024602.6

p.E761Q

c.2281G>C

1 paper

NM_024602.6

p.E764K

c.2290G>A

1 paper

NM_024602.6

p.P765Q

c.2294C>A

1 paper

NM_024602.6

p.R696H

c.2087G>A

1 paper

NM_024602.6

p.D695Y

c.2083G>T

1 paper

NM_024602.6

p.G694R

c.2080G>C

1 paper

NM_024602.6

p.G694R

c.2080G>A

2 papers

NM_024602.6

p.E681Q

c.2041G>C

1 paper

NM_024602.6

p.F662delFs

c.1986delG

1 paper

NM_024602.6

p.F662fs

c.1984_1985fs

1 paper

NM_024602.6

p.T659M

c.1976C>T