Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q1503*
Back to variants list

ATM

NM_000051.4:p.Q1503*

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Low-grade oncocytic tumor of the kidney-a clinical, pathological, and next generation sequencing-based study of 20 tumors.

Jenei A et al.

Pathology Oncology Research : Por, 2025

Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.

Sierra-Díaz DC et al.

Human Genomics, 2024

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families.

Fonfria M et al.

Journal of Personalized Medicine, 2021

Genetic Counseling for Hereditary Gastric and Pancreatic Cancer in High-Risk Gastrointestinal Cancer Clinics: An Effective Strategy.

Llach J et al.

Cancers, 2020

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

Lu HM et al.

Jama Oncology, 2019

Myoclonus in ataxia-telangiectasia.

Termsarasab P et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015

Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

Mitui M et al.

Human Mutation, 2003

Ataxia-telangiectasia in pediatric neurology clinics: A retrospective multicenter study.

Şenol HB et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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."