Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q172E
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BRCA1

NM_007294.4:p.Q172E

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

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

Diabate M et al.

Plos Genetics, 2023

37578980 (PubMed )
Supplement: pgen.1010739.s006.xlsx › Sheet1

Efficacy of immunotherapy in lung cancer with co-occurring mutations in NOTCH and homologous repair genes.

Mazzotta M et al.

Journal for Immunotherapy of Cancer, 2020

32759236 (PubMed )
Supplement: jitc-2020-000946supp001.xlsx › all_prediction_score_merged
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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."