Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q222*
Back to variants list

ATM

NM_000051.4:p.Q222*

Associated Papers

Recombination junctions from antibody isotype switching classify immune and DNA repair dysfunction.

Vázquez García C et al.

Nature Communications, 2025

41419734 (PubMed )
Supplement: 41467_2025_67206_MOESM4_ESM.xlsx › Table_S1

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.

Liu J et al.

Nature Genetics, 2025

40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6

Breast cancers in monoallelic MUTYH germline mutation carriers have clinicopathological features overlapping with those in BRCA1 germline mutation carriers.

Keske A et al.

Breast Cancer Research and Treatment, 2024

Next-generation sequencing of uveal melanoma with clinical and histological correlations: Prognostic value of new mutations in the PI3K/AKT/mTOR pathway.

Pérez-Pérez M et al.

Clinical & Experimental Ophthalmology, 2023

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Next-generation sequencing reveals a novel pathogenic variant in the ATM gene.

Pourahmadiyan A et al.

The International Journal of Neuroscience, 2022

The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia.

Amirifar P et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2021

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."