Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q1785H
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BRCA1

NM_007294.4:p.Q1785H

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-3.xlsx › Table_S2

BRCA1 frameshift variants leading to extended incorrect protein C termini.

Nepomuceno TC et al.

Hgg Advances, 2023

37718511 (PubMed )
Supplement: mmc1.pdf

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

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

Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk.

Petitalot A et al.

Molecular Cancer Research : Mcr, 2019

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

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › 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

Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.

Carvalho RS et al.

Plos One, 2014

24845084 (PubMed )
Supplement: pone.0097766.s001.xlsx › Supplementary_Materials_1

Whole-genome sequencing of the world's oldest people.

Gierman HJ et al.

Plos One, 2014

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.

Iversen ES et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2011

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

Lee MS et al.

Cancer Research, 2010

Functional impact of missense variants in BRCA1 predicted by supervised learning.

Karchin R et al.

Plos Computational Biology, 2007

17305420 (PubMed )
Supplement: pcbi.0030026.st001.doc

Breast cancer genetics in African Americans.

Olopade OI et al.

Cancer, 2003

BRCA1 mutations in African Americans.

Panguluri RC et al.

Human Genetics, 0

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