Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.K750_S751Splc
Back to variants list

ATM

NM_000051.4:p.K750_S751Splc

Associated Papers

Pembrolizumab efficacy in a tumor mutation burden-high glioblastoma patient: A case study and implications for precision oncology.

Nishiyama A et al.

Cancer Science, 2025

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

Functional and molecular defects of hiPSC-derived neurons from patients with ATM deficiency.

Carlessi L et al.

Cell Death & Disease, 2014

Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.

Hacia JG et al.

Genome Research, 1998

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."