Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.F43I
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BRCA1

NM_007294.4:p.F43I

Associated Papers

ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence.

Ramadane-Morchadi L et al.

American Journal of Human Genetics, 2025

40233743 (PubMed )
Supplement: mmc2.xlsx › Hoja1

Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.

Yang X et al.

Bmc Medicine, 2024

38281914 (PubMed )
Supplement: 12916_2024_3257_MOESM1_ESM.xlsx › Table_S4

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.

Thomassen M et al.

Human Mutation, 2022

35979650 (PubMed )
Supplement: HUMU-43-1921-s002.XLSX › Supp_T7

Integrative analysis of genomic and transcriptomic alterations of AGR2 and AGR3 in cancer.

Fessart D et al.

Open Biology, 2022

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_2.xlsx › Sheet1

Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants.

Özkan S et al.

International Journal of Molecular Sciences, 2021

34207612 (PubMed )
Supplement: ijms-22-06226-s001.zip › SUPP_FIGURES_TABLES › SupplementaryTable4.xlsx › supp_table4

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM et al.

Nature, 2018

30209399 (PubMed )
Supplement: NIHMS1501643-supplement-2.xlsx › Sheet1

A novel crosstalk between BRCA1 and sirtuin 1 in ovarian cancer.

Li D et al.

Scientific Reports, 2014

25323003 (PubMed )
Supplement: srep06666-s1.pdf

Glucocorticoid receptor repression mediated by BRCA1 inactivation in ovarian cancer.

Fang YY et al.

Bmc Cancer, 2014

24629067 (PubMed )
Supplement: 1471-2407-14-188-S1.pdf

BRCA1 as a nicotinamide adenine dinucleotide (NAD)-dependent metabolic switch in ovarian cancer.

Li D et al.

Cell Cycle (georgetown, Tex.), 2014

25486197 (PubMed )
Supplement: supplement_1.pdf

Effect of BRCA1 on epidermal growth factor receptor in ovarian cancer.

Li D et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2013

24321281 (PubMed )
Supplement: 1756-9966-32-102-S1.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."