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.V204I

c.610G>A

Surrounding Variants

1 paper

NM_024602.6

p.A197T

c.589G>A

1 paper

NM_024602.6

p.L190L

c.568C>T

1 paper

NM_024602.6

p.T213A

c.637A>G

1 paper

NM_024602.6

p.H224D

c.670C>G

1 paper

NM_024602.6

p.Q165_L167del3

c.493_500del9

1 paper

NM_024602.6

p.Q165_L167del0

c.494_499del6

1 paper

NM_024602.6

p.L161F

c.481C>T

1 paper

NM_024602.6

p.N159S

c.476A>G

1 paper

NM_024602.6

p.P158S

c.472C>T

1 paper

NM_024602.6

p.A146E

c.437C>A

1 paper

NM_024602.6

p.A127G

c.380C>G

1 paper

NM_024602.6

p.Q278_L283delFs

c.832_847del16