Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1535Q
Back to variants list

BRCA1

NM_007294.4:p.E1535Q

Associated Papers

Multiplexed assay of variant effect reveals residues of functional importance in the BRCA1 coiled-coil and serine cluster domains.

Nagy G et al.

Plos One, 2023

37917606 (PubMed )
Supplement: pone.0293422.s008.xlsx › Table_S2.Compiled_Results

BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.

Fu X et al.

Frontiers in Cell and Developmental Biology, 2022

35300412 (PubMed )
Supplement: DataSheet1.xlsx › Sheet1

Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough.

Abreu RBV et al.

Frontiers in Pharmacology, 2022

Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations.

Alemar B et al.

Cancer Genetics, 2016

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."