Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.G1743R
Back to variants list

BRCA1

NM_007294.4:p.G1743R

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 › BRCT2_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

Characterization of BRCA Deficiency in Ovarian Cancer.

Barbero G et al.

Cancers, 2023

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

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

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

An A10398G mitochondrial DNA alteration is related to increased risk of breast cancer, and associates with Her2 positive receptor.

Jahani MM et al.

Mitochondrial Dna. Part A, Dna Mapping, Sequencing, and Analysis, 2020

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

Mirkovic N et al.

Cancer Research, 2004

Mutations in the BRCT domain confer temperature sensitivity to BRCA1 in transcription activation.

Carvalho MA et al.

Cancer Biology & Therapy, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."