Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.D2444Y
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BRCA2

NM_000059.4:p.D2444Y

Associated Papers

ctDNA as a Molecular Biomarker in the Phase II Trial of Imatinib plus Binimetinib in Patients with Advanced Gastrointestinal Stromal Tumor.

Kelly CM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Longitudinal genomic profiling of chemotherapy-related CHIP variants in patients with ovarian cancer.

Corvigno S et al.

Frontiers in Oncology, 2025

40365343 (PubMed )
Supplement: Table3.xlsx › b

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Walker LC et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36865205 (PubMed )
Supplement: media-10.xlsx › Table_S2

Role of Homologous Recombination Repair (HRR) Genes in Uterine Leiomyosarcomas: A Retrospective Analysis.

Ciccarone F et al.

Cancers, 2022

35454841 (PubMed )
Supplement: cancers-14-01934-s001.zip › cancers-1660929-supplementary.pdf

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.

Fraile-Bethencourt E et al.

Frontiers in Genetics, 2019

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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."