Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L147_Q148Splc
Back to variants list

BRCA1

NM_007294.4:p.L147_Q148Splc

Associated Papers

The BRCA1/BARD1 complex recognizes pre-ribosomal RNA to facilitate homologous recombination.

Wu D et al.

Cell Discovery, 2023

37789001 (PubMed )
Supplement: 41421_2023_590_MOESM1_ESM.xlsx › Sheet1

Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.

Zayas-Villanueva OA et al.

Bmc Cancer, 2019

31331294 (PubMed )
Supplement: 12885_2019_5950_MOESM1_ESM.xlsx › Healthy

Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.

Zanella I et al.

Experimental and Molecular Pathology, 2017

New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

Kluska A et al.

Bmc Medical Genomics, 2015

25948282 (PubMed )
Supplement: 12920_2015_92_MOESM1_ESM.xlsx › Table_S1
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."