Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1431P
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BRCA1

NM_007294.4:p.S1431P

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 › WT-ABE_library_annotation

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

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

Direct genomic multiplex PCR for BRCA1 and application to mutation detection by single-strand conformation and heteroduplex analysis.

Barker DF

Human Mutation, 2000

Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protocols.

Markoff A et al.

European Journal of Human Genetics : Ejhg, 0

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