Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q240*
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BRCA1

NM_007294.4:p.Q240*

Associated Papers

Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.

Andaluz S et al.

Bmc Genomics, 2024

38671360 (PubMed )
Supplement: 12864_2024_10311_MOESM6_ESM.xlsx › BRCA1

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-6.xlsx › Table_S5

Ovarian squamous cell carcinoma associated with teratoma: a report of six cases with genomic analysis.

Liang Y et al.

Pathology, 2023

The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

Palmero EI et al.

Scientific Reports, 2018

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.

Weren RD et al.

Human Mutation, 2017

27767231 (PubMed )
Supplement: HUMU-38-226-s002.xlsx › SupplementaryTable2

Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site.

Brewster BL et al.

Human Mutation, 2012

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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."