Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.E135K
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PIK3CA

NM_006218.4:p.E135K

Associated Papers

PIK3CA-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case Report.

Acikgoz NB et al.

Molecular Syndromology, 2025

Genetic Characterization of Ovarian Tumor Tissues from Patients with Epithelial Ovarian Cancer in a Philippine Tertiary Hospital: A Descriptive Study.

Lintao RCV et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2023

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Mussa A et al.

Journal of Medical Genetics, 2023

Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.

Porkka NK et al.

Oncotarget, 2020

32292574 (PubMed )
Supplement: oncotarget-11-1244-s005.xlsx › Sheet1

Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Peng M et al.

Journal of Medical Genetics, 2019

30981987 (PubMed )
Supplement: jmedgenet-2018-105825supp001.xlsx › Table_S3

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.

Zollino M et al.

Molecular Genetics & Genomic Medicine, 2019

Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

Orloff MS et al.

American Journal of Human Genetics, 2013

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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."