Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.T278S
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BRCA1

NM_007294.4:p.T278S

Associated Papers

Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.

Shi Q et al.

Translational Oncology, 2025

40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA1

Comprehensive classification of TP53 somatic missense variants based on their impact on p53 structural stability.

Tam B et al.

Briefings in Bioinformatics, 2024

Small-scale mutations are infrequent as mechanisms of resistance in post-PARP inhibitor tumour samples in high grade serous ovarian cancer.

Burdett NL et al.

Scientific Reports, 2023

38072854 (PubMed )
Supplement: 41598_2023_48153_MOESM1_ESM.xlsx › Supplementary_table_3

DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.

Diabate M et al.

Plos Genetics, 2023

37578980 (PubMed )
Supplement: pgen.1010739.s013.xlsx › Sheet1
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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."