Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.D23V
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BRCA2

NM_000059.4:p.D23V

Associated Papers

Precision screening facilitates clinical classification of BRCA2-PALB2 binding variants with benign and pathogenic functional effects.

Bose M et al.

The Journal of Clinical Investigation, 2025

APP substrate ectodomain defines amyloid-β peptide length by restraining γ-secretase processivity and facilitating product release.

Koch M et al.

The Embo Journal, 2023

37853914 (PubMed )
Supplement: EMBJ-42-e114372-s009.pdf

The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.

Yamazawa K et al.

Cancer Science, 2023

37067535 (PubMed )
Supplement: CAS-114-2993-s001.pdf

Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Aljarf R et al.

Scientific Reports, 2022

35729312 (PubMed )
Supplement: 41598_2022_13508_MOESM2_ESM.xlsx › Sheet1

High-throughput functional evaluation of BRCA2 variants of unknown significance.

Ikegami M et al.

Nature Communications, 2020

32444794 (PubMed )
Supplement: 41467_2020_16141_MOESM7_ESM.xlsx › MANO-B_for_244_variants
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