UBE2T Chromosome 1
Ubiquitin conjugating enzyme E2 T
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What This Gene Does
The protein encoded by this gene catalyzes the covalent attachment of ubiquitin to protein substrates. Defects in this gene have been associated with Fanconi anemia of complementation group T. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
Gene Info
Gene Group
"Ubiquitin conjugating enzymes E2|FA complementation groups"
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000077152
Associated Conditions (1)
Fanconi anemia complementation group T
Key Variants
RS200130395
Conflicting classifications of pathogenicity
Health Risk
RS759606476
Likely pathogenic
Health Risk
RS769303670
Pathogenic
Health Risk
RS774357609
Pathogenic
Fanconi anemia complementation group T, Fanconi anemia complementation group T
Health Risk
RS796052212
Pathogenic
Fanconi anemia complementation group T, Fanconi anemia complementation group T
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200130395 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759606476 | Health Risk | Likely pathogenic | — |
| RS769303670 | Health Risk | Pathogenic | — |
| RS774357609 | Health Risk | Pathogenic | Fanconi anemia complementation group T, Fanconi anemia complementation group T |
| RS796052212 | Health Risk | Pathogenic | Fanconi anemia complementation group T, Fanconi anemia complementation group T |