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.C494_F499del6

c.1480_1496del18

Surrounding Variants

1 paper

NM_024602.6

p.K495N

c.1485G>T

1 paper

NM_024602.6

p.K495N

c.1485G>C

1 paper

NM_024602.6

p.A481V

c.1442C>T

1 paper

NM_024602.6

p.R478C

c.1432C>T

1 paper

NM_024602.6

p.R461C

c.1381C>T

1 paper

NM_024602.6

p.R452fs

c.1354_1355fs

1 paper

NM_024602.6

p.E513*

c.1537G>T

1 paper

NM_024602.6

p.Y524C

c.1571A>G

1 paper

NM_024602.6

p.E529V

c.1586A>T

1 paper

NM_024602.6

p.D539A

c.1616A>C

1 paper

NM_024602.6

p.R545Q

c.1634G>A

1 paper

NM_024602.6

p.D546A

c.1637A>C