Varaico: Literature-Extracted Genetic Variants

Gene:UBE2T
Variant:p.Q2E
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UBE2T

NM_014176.4:p.Q2E

Associated Papers

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table2.XLSX › Sheet1

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype.

Schultz-Rogers L et al.

Haematologica, 2021

S. pombe Uba1-Ubc15 Structure Reveals a Novel Regulatory Mechanism of Ubiquitin E2 Activity.

Lv Z et al.

Molecular Cell, 2017

Mechanism and disease association of E2-conjugating enzymes: lessons from UBE2T and UBE2L3.

Alpi AF et al.

The Biochemical Journal, 2016

Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.

Hira A et al.

American Journal of Human Genetics, 2015

Advances in the understanding of Fanconi Anemia Complementation Group D2 Protein (FANCD2) in human cancer.

Shen Y et al.

Cancer Cell & Microenvironment, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."