Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.F278F
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PTEN

NM_000314.8:p.F278F

Associated Papers

Targeted next-generation sequencing of matched localized and metastatic primary high-risk SCCs identifies driver and co-occurring mutations and novel therapeutic targets.

Lobl MB et al.

Journal of Dermatological Science, 2020

Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

Ngeow J et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2014

A novel PTEN gene promoter mutation and untypical Cowden syndrome.

Liu C et al.

Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2013

Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation.

Teresi RE et al.

American Journal of Human Genetics, 2007

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

Zhou XP et al.

American Journal of Human Genetics, 2003

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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."