Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.E453G
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PIK3CA

NM_006218.4:p.E453G

Associated Papers

Profiling PIK3CA variants in disorders of somatic mosaicism.

Mojarad BA et al.

Genetics in Medicine Open, 2023

39669231 (PubMed )
Supplement: mmc2.xlsx › Sheet1

High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.

Kostecka A et al.

Npj Breast Cancer, 2022

Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.

Park HJ et al.

Orphanet Journal of Rare Diseases, 2020

Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes.

Sakthikumar S et al.

Genome Biology, 2020

32513296 (PubMed )
Supplement: 13059_2020_2035_MOESM3_ESM.xlsx › Additional_file_3_-_Table_S2

Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.

Woodhouse R et al.

Plos One, 2020

32976510 (PubMed )
Supplement: pone.0237802.s009.zip › Table_9_Accuracy_Short_Variant_Line_Data.xlsx › sheet_1

Genetic analysis of uterine adenosarcomas and phyllodes tumors of the breast.

Geyer FC et al.

Molecular Oncology, 2017

28267263 (PubMed )
Supplement: MOL2-11-913-s007.pdf
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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."