Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.K147R
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PTEN

NM_000314.8:p.K147R

Associated Papers

Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.

Dawood M et al.

Genome Medicine, 2024

39627863 (PubMed )
Supplement: 13073_2024_1392_MOESM1_ESM.xlsx › Table_S19

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

Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.

Toh MR et al.

Jnci Cancer Spectrum, 2018

31360874 (PubMed )
Supplement: pky054_supp.docx

One-Tube-Only Standardized Site-Directed Mutagenesis: An Alternative Approach to Generate Amino Acid Substitution Collections.

Mingo J et al.

Plos One, 2016

Tumor suppressor PTEN in breast cancer: heterozygosity, mutations and protein expression.

Kechagioglou P et al.

Anticancer Research, 2014

The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.

Stehr H et al.

Molecular Cancer, 2011

21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt
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