Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.K1435*
Back to variants list

ATM

NM_000051.4:p.K1435*

Associated Papers

The repertoire of germline variants in patients with early-onset rectal cancer.

Beltrami CM et al.

Cancer Communications (london, England), 2022

35029067 (PubMed )
Supplement: CAC2-42-481-s003.xlsx › Supp._Table_S3

Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Yamamoto K et al.

Elife, 2016

27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A

Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.

Coutinho G et al.

American Journal of Medical Genetics. Part A, 2004

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

Mitui M et al.

Human Mutation, 2003

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."