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.M551I

c.1653G>C

Surrounding Variants

1 paper

NM_024602.6

p.M551I

c.1653G>T

1 paper

NM_024602.6

p.M551I

c.1653G>A

1 paper

NM_024602.6

p.E553E

c.1659A>G

1 paper

NM_024602.6

p.D546A

c.1637A>C

1 paper

NM_024602.6

p.R545Q

c.1634G>A

1 paper

NM_024602.6

p.D561G

c.1682A>G

1 paper

NM_024602.6

p.T562I

c.1685C>T

1 paper

NM_024602.6

p.R571C

c.1711C>T

1 paper

NM_024602.6

p.D539A

c.1616A>C

1 paper

NM_024602.6

p.E529V

c.1586A>T

1 paper

NM_024602.6

p.Y524C

c.1571A>G

1 paper

NM_024602.6

p.E513*

c.1537G>T