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.G314R

c.940G>A

Surrounding Variants

1 paper

NM_024602.6

p.G314R

c.940G>C

1 paper

NM_024602.6

p.Y313C

c.938A>G

1 paper

NM_024602.6

p.D318E

c.954C>G

1 paper

NM_024602.6

p.D318E

c.954C>A

1 paper

NM_024602.6

p.V326M

c.976G>A

1 paper

NM_024602.6

p.L295L

c.885A>G

1 paper

NM_024602.6

p.K293E

c.877A>G

1 paper

NM_024602.6

p.Q278_L283del6

c.832_848del18

1 paper

NM_024602.6

p.Q278_L283delFs

c.832_847del16

1 paper

NM_024602.6

p.H224D

c.670C>G

1 paper

NM_024602.6

p.T213A

c.637A>G

1 paper

NM_024602.6

p.V204I

c.610G>A