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Article

Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers.

Genome medicine - 14 Oct 2021

Matreyek Kenneth A, Stephany Jason J, Ahler Ethan, Fowler Douglas M

Abstract excerpt

BACKGROUND: PTEN is a multi-functional tumor suppressor protein regulating cell growth, immune signaling, neuronal function, and genome stability. Experimental characterization can help guide the clinical interpretation of the thousands of germline or somatic PTEN variants observed in patients. Two large-scale mutational datasets, one for PTEN variant intracellular abundance encompassing 4112 missense variants...

Read the complete abstract on PubMed

Topics

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Share to Gene Expression Regulation, Neoplastic
Share to Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genomics

Share to Germ-Line Mutation

Share to HEK293 Cells

Share to Mutation, Missense

Share to Neoplasms

Share to PTEN Phosphohydrolase

Source

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Identifiers

PMID: 34649609
DOI: 10.1186/s13073-021-00984-x
PMCID: PMC8518224

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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