Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S273L
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BRCA2

NM_000059.4:p.S273L

Associated Papers

The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.

Alvaro-Aranda L et al.

Nucleic Acids Research, 2024

38142462 (PubMed )
Supplement: gkad1222_supplemental_file.pdf

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

Replication gap suppression depends on the double-strand DNA binding activity of BRCA2.

Vugic D et al.

Nature Communications, 2023

Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean.

George SHL et al.

Jama Network Open, 2021

33646313 (PubMed )
Supplement: jamanetwopen-e210307-s001.pdf

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

Maxwell KN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

25503501 (PubMed )
Supplement: NIHMS641969-supplement-Supplementary_Table_1.xls › Sheet1

Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Martelotto LG et al.

Genome Biology, 2014

25348012 (PubMed )
Supplement: 13059_2014_484_MOESM2_ESM.xlsx › Additional_file_2
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