Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.V1804A
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BRCA1

NM_007294.4:p.V1804A

Associated Papers

Profiling BRCA1-BRCT interactions and their functional relevance at amino acid resolution.

Mangkusaputra V et al.

Nucleic Acids Research, 2025

40966517 (PubMed )
Supplement: gkaf848_supplemental_files.zip › Sup_table_2___ABX_CtIP_complete_count_and_scores.xlsx › BRCT3_ABX

Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.

Gracia B et al.

Cell Reports, 2024

38368609 (PubMed )
Supplement: NIHMS1970903-supplement-5.xlsx › Table_S4

BRCA1 frameshift variants leading to extended incorrect protein C termini.

Nepomuceno TC et al.

Hgg Advances, 2023

37718511 (PubMed )
Supplement: mmc1.pdf

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s001.xlsx › Indian

Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.

Nepomuceno TC et al.

Scientific Reports, 2022

36171434 (PubMed )
Supplement: 41598_2022_20500_MOESM1_ESM.pdf

Identification of Shared Neoantigens in BRCA1-Related Breast Cancer.

Ruangapirom L et al.

Vaccines, 2022

36298462 (PubMed )
Supplement: vaccines-10-01597-s001.zip › vaccines-1858387-supplementary.pdf

An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.

Iversen ES et al.

Npj Genomic Medicine, 2022

35665744 (PubMed )
Supplement: 41525_2022_302_MOESM3_ESM.xlsx › BRCA1_inSilico_PCs___AGVGD

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

Screening of germline mutations in young Rwandan patients with breast cancers.

Uyisenga JP et al.

Molecular Genetics & Genomic Medicine, 2020

Classification of VUS and unclassified variants in BRCA1 BRCT repeats by molecular dynamics simulation.

Sinha S et al.

Computational and Structural Biotechnology Journal, 2020

Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India.

Sharma-Oates A et al.

Precision Clinical Medicine, 2018

35693198 (PubMed )
Supplement: pby010_supplementarytables1_2_v2.xlsx › Sheet1

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

Woods NT et al.

Npj Genomic Medicine, 2016

28781887 (PubMed )
Supplement: npjgenmed20161-s1.pdf

Functional characterization of BRCA1 sequence variants using a yeast small colony phenotype assay.

Coyne RS et al.

Cancer Biology & Therapy, 2004

Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.

Valarmathi MT et al.

Human Mutation, 2004

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