Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Y130H
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BRCA1

NM_007294.4:p.Y130H

Associated Papers

Benchmarking of SpCas9 variants enables deeper base editor screens of BRCA1 and BCL2.

Sangree AK et al.

Nature Communications, 2022

35288574 (PubMed )
Supplement: 41467_2022_28884_MOESM10_ESM.xlsx › variant-ABE_library_annotation

Characterization of BRCA1-deficient premalignant tissues and cancers identifies Plekha5 as a tumor metastasis suppressor.

Liu J et al.

Nature Communications, 2020

32978388 (PubMed )
Supplement: 41467_2020_18637_MOESM8_ESM.xlsx › 476MMG_and_476PT

Establishing a control population to screen for the occurrence of nineteen unclassified variants in the BRCA1 gene by denaturing high-performance liquid chromatography.

Arnold N et al.

Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences, 2002

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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."