Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.V317I
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PTEN

NM_000314.8:p.V317I

Associated Papers

Multigene Detection Analysis of Multifocal Papillary Thyroid Carcinoma.

Fang X et al.

Clinical Endocrinology, 2025

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

Comprehensive characterization of early-onset lung cancer, in Chinese young adults.

Tian Y et al.

Nature Communications, 2025

40000630 (PubMed )
Supplement: 41467_2025_57309_MOESM8_ESM.xlsx › DNA_results

Identifying Novel Germline Mutations and Copy Number Variations in Patients With SCLC.

Ul Haq S et al.

Jto Clinical and Research Reports, 2024

39564094 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Multigene testing panels reveal pathogenic variants in sporadic breast cancer patients in northern China.

Liu Y et al.

Frontiers in Genetics, 2023

38028594 (PubMed )
Supplement: Table3.XLSX › Sheet1

Case report: Neurofibromatosis type 1 gastrointestinal stromal tumor and small bowel adenocarcinoma with a novel germline NF1 frameshift mutation.

Zhang W et al.

Frontiers in Oncology, 2022

Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.

Ma KY et al.

Npj Parkinson's Disease, 2021

Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.

Kim B et al.

Scientific Reports, 2020

32868804 (PubMed )
Supplement: 41598_2020_71386_MOESM1_ESM.pdf
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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."