Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S1092*
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ATM

NM_000051.4:p.S1092*

Associated Papers

GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.

Rashid I et al.

Nar Genomics and Bioinformatics, 2025

41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

McGuigan A et al.

European Journal of Human Genetics : Ejhg, 2022

34983940 (PubMed )
Supplement: 41431_2021_1013_MOESM1_ESM.pdf

Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.

Dalmasso B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Comprehensive analysis of DNA damage repair genes reveals pathogenic variants beyond BRCA and suggests the need for extensive genetic testing in pancreatic cancer.

Rapposelli IG et al.

Bmc Cancer, 2021

Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1.

Pastorino L et al.

Cancers, 2020

Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families.

Cavaciuti E et al.

Genes, Chromosomes & Cancer, 2005

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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."