Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.D331G
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PTEN

NM_000314.8:p.D331G

Associated Papers

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

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

Matreyek KA et al.

Genome Medicine, 2021

Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.

Zivanovic Bujak A et al.

Plos Medicine, 2020

33001984 (PubMed )
Supplement: pmed.1003363.s013.xlsx › S4_Table

Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.

Palumbo E et al.

Journal of Biomolecular Structure & Dynamics, 2020

31232187 (PubMed )
Supplement: supplement_1.zip › Supplement_S4_mutants_nochange.xlsx › Mutants_no_change

Multiplex assessment of protein variant abundance by massively parallel sequencing.

Matreyek KA et al.

Nature Genetics, 2018

29785012 (PubMed )
Supplement: NIHMS956040-supplement-2.doc

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

The determinants of head and neck cancer: Unmasking the PI3K pathway mutations.

Giudice FS et al.

Journal of Carcinogenesis & Mutagenesis, 2013

A new insight into structural and functional impact of single-nucleotide polymorphisms in PTEN gene.

George Priya Doss C et al.

Cell Biochemistry and Biophysics, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

Loss of heterozygosity and mutational analysis of the PTEN/MMAC1 gene in synchronous endometrial and ovarian carcinomas.

Lin WM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 1998

The Value of Detecting and Monitoring ctDNA in Uveal Melanoma: Results of a Pilot Study and a Systematic Review.

Azimi F et al.

Case Reports in Ophthalmology, 0

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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."