Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.I143V
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PIK3CA

NM_006218.4:p.I143V

Associated Papers

Ultra-deep targeted next-generation sequencing with peripheral blood in patients with vascular malformations: a cohort of 40 patients.

Mitamura S et al.

Molecular Biology Reports, 2025

The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.

McGrath MJ et al.

Febs Letters, 2025

Targeting TRIP13 in favorable histology Wilms tumor with nuclear export inhibitors synergizes with doxorubicin.

Mittal K et al.

Communications Biology, 2024

38589567 (PubMed )
Supplement: 42003_2024_6140_MOESM4_ESM.xlsx › Supplementary_Data_1

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

Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a Caucasian family.

De Summa S et al.

Oncotarget, 2017

Somatic PIK3CA mutations as a driver of sporadic venous malformations.

Castel P et al.

Science Translational Medicine, 2016

Synthetic lethality by targeting EZH2 methyltransferase activity in ARID1A-mutated cancers.

Bitler BG et al.

Nature Medicine, 2015

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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."