Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1363L
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BRCA1

NM_007294.4:p.S1363L

Associated Papers

The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.

Shaw CA et al.

American Journal of Human Genetics, 2025

40829599 (PubMed )
Supplement: mmc2.xlsx › Annotations

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S15

Benchmarking of SpCas9 variants enables deeper base editor screens of BRCA1 and BCL2.

Sangree AK et al.

Nature Communications, 2022

35288574 (PubMed )
Supplement: 41467_2022_28884_MOESM9_ESM.xlsx › WT-CBE_library_annotation

The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.

Dong L et al.

Cancer Biology & Medicine, 2021

34570441 (PubMed )
Supplement: cbm-19-850-s001.pdf

Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Huang C et al.

Genome Biology, 2021

33691754 (PubMed )
Supplement: 13059_2021_2305_MOESM7_ESM.xlsx › Table_S6

Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Dines JN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31911673 (PubMed )
Supplement: 41436_2019_740_MOESM2_ESM.xlsx › 1._Used_in_analysis

Detection of Marker-Free Precision Genome Editing and Genetic Variation through the Capture of Genomic Signatures.

Billon P et al.

Cell Reports, 2020

32160537 (PubMed )
Supplement: NIHMS1574790-supplement-1.pdf
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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."