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

1–12 of 94 variants

3 papers

NM_024602.6

p.A816T

c.2446G>A

2 papers

NM_024602.6

p.K120K

c.360G>A

2 papers

NM_024602.6

p.N577S

c.1730A>G

2 papers

NM_024602.6

p.E681Q

c.2041G>C

1 paper

NM_024602.6

p.M1R

c.2T>G

1 paper

NM_024602.6

p.R14P

c.41G>C

1 paper

NM_024602.6

p.S29R

c.85A>C

1 paper

NM_024602.6

p.S29R

c.87C>G

1 paper

NM_024602.6

p.S29R

c.87C>A

1 paper

NM_024602.6

p.L30F

c.88C>T

1 paper

NM_024602.6

p.P44T

c.130C>A

1 paper

NM_024602.6

p.P55_A56del1

c.165_167delGCT