Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.C211fs
Back to variants list

PTEN

NM_000314.8:p.C211fs

Associated Papers

Cowden syndrome presenting with ascending aortic aneurysm: echocardiogram and computed tomography angiography findings.

Albrecht MEM et al.

Indian Journal of Thoracic and Cardiovascular Surgery, 2026

A rare co-presentation of bicuspid aortic valve aortopathy and PTEN mutation: hypothesis-generating, not practice-changing.

Grewal N et al.

Indian Journal of Thoracic and Cardiovascular Surgery, 2026

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3C

Erythroblastic Sarcoma in Adults and Children: Different Pathways to the Same Destination.

Fitzpatrick MJ et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › PTEN

Detection of disease-causing mutations in prostate cancer by NGS sequencing.

Mangolini A et al.

Cell Biology International, 2022

Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients.

Hilke FJ et al.

Cancers, 2020

32825510 (PubMed )
Supplement: cancers-12-02359-s001.zip › cancers-898298-supplementary › SupplementTable_1-14_20200710.xlsx › Table_S8
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."