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

2 papers

NM_024602.6

p.K120K

c.360G>A

Surrounding Variants

1 paper

NM_024602.6

p.G101S

c.301G>A

1 paper

NM_024602.6

p.R93_S95del0

c.278_283del6

1 paper

NM_024602.6

p.L89L

c.267C>T

1 paper

NM_024602.6

p.P88S

c.262C>T

1 paper

NM_024602.6

p.P80S

c.238C>T

1 paper

NM_024602.6

p.A78E

c.233C>A

1 paper

NM_024602.6

p.V65G

c.194T>G

1 paper

NM_024602.6

p.P55_A56del1

c.165_167delGCT

1 paper

NM_024602.6

p.A127G

c.380C>G

1 paper

NM_024602.6

p.P44T

c.130C>A

1 paper

NM_024602.6

p.A146E

c.437C>A

1 paper

NM_024602.6

p.L30F

c.88C>T