Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.A2466E
Back to variants list

ATM

NM_000051.4:p.A2466E

Associated Papers

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

Monogenic inborn errors of immunity in autoimmune disorders.

Venkatachari IV et al.

Immunologic Research, 2023

Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.

Chakravorty S et al.

Scientific Reports, 2020

Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia.

Hettiarachchi D et al.

Case Reports in Genetics, 2020

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."