Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S227L
Back to variants list

ATM

NM_000051.4:p.S227L

Associated Papers

Putative multiple myeloma susceptibility genes identified by exome sequencing of 347 familial and early-onset cases.

Pertesi M et al.

Leukemia, 2026

41254116 (PubMed )
Supplement: 41375_2025_2802_MOESM2_ESM.pdf

Germline Mutation Analysis and Real-World Impact in a Selected Cohort of Patients with Non-Small Cell Lung Cancer: INHERITY LC Study.

Zurera M et al.

Clinical Lung Cancer, 2025

Unproductive alternative splicing of ATM exon 7: mapping of critical regulatory elements and identification of 34 spliceogenic variants.

Llinares-Burguet I et al.

Journal of Molecular Medicine (berlin, Germany), 2025

Moderate-Low Risk Breast Cancer Gene Expression in a Romanian Population.

Goidescu IG et al.

International Journal of Molecular Sciences, 2025

Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing.

Illés A et al.

Bmc Medical Genomics, 2024

Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.

Karlsson Q et al.

European Urology Oncology, 2021

33436325 (PubMed )
Supplement: mmc2.xlsx › Table_S4

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Tsaousis GN et al.

Bmc Cancer, 2019

31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM6_ESM.xlsx › Supplementary_Table_S5

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s13.xlsx › supplementary_data_12
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."