Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E286K
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BRCA1

NM_007294.4:p.E286K

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_MOESM9_ESM.xlsx › WT-CBE_library_annotation

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_15.xlsx › Sheet1

Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Huang C et al.

Genome Biology, 2021

33691754 (PubMed )
Supplement: 13059_2021_2305_MOESM7_ESM.xlsx › Table_S6

Detection of genomic alterations in breast cancer with circulating tumour DNA sequencing.

Kleftogiannis D et al.

Scientific Reports, 2020

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.

Nassar AH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

30593515 (PubMed )
Supplement: 10780432ccr183147-sup-209386_2_supp_5192871_ptz639.xlsx › S1.4_Deleterious_SNV__indels

Genetic characterisation of molecular targets in carcinoma of unknown primary.

Clynick B et al.

Journal of Translational Medicine, 2018

Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.

Xiu J et al.

Oncotarget, 2016

26933808 (PubMed )
Supplement: oncotarget-07-21556-s001.pdf

Comprehensive genomic profiling of 295 cases of clinically advanced urothelial carcinoma of the urinary bladder reveals a high frequency of clinically relevant genomic alterations.

Ross JS et al.

Cancer, 2016

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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."