Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.D245N
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BRCA1

NM_007294.4:p.D245N

Associated Papers

Utilizing TP53 hotspot mutations as effective predictors of gemcitabine treatment outcome in non-small-cell lung cancer.

Tseng YH et al.

Cell Death Discovery, 2025

39870629 (PubMed )
Supplement: 41420_2025_2300_MOESM2_ESM.xlsx › Supplement_table_2

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

Tam B et al.

Briefings in Bioinformatics, 2024

Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.

de Freitas Ribeiro AA et al.

European Journal of Medical Research, 2024

38504328 (PubMed )
Supplement: 40001_2024_1767_MOESM1_ESM.xlsx › Other_genes

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

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer.

Walsh T et al.

Jama, 2006

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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."