Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.V369I
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PTEN

NM_000314.8:p.V369I

Associated Papers

Cancer and disease profiles for PTEN pathogenic variants in Japanese population.

Kanazashi Y et al.

Journal of Human Genetics, 2025

39663357 (PubMed )
Supplement: 10038_2024_1311_MOESM1_ESM.xlsx › Table_S9

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_S18

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Munté E et al.

Bioinformatics (oxford, England), 2023

36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST11-PTEN
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