Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S978Y
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ATM

NM_000051.4:p.S978Y

Associated Papers

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_7.xlsx › Sheet1

Structure of the human ATM kinase and mechanism of Nbs1 binding.

Warren C et al.

Elife, 2022

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s022.xlsx › CRC.Drivers.Edited

Pathogenic Germline Variants in 10,389 Adult Cancers.

Huang KL et al.

Cell, 2018

High-depth sequencing of over 750 genes supports linear progression of primary tumors and metastases in most patients with liver-limited metastatic colorectal cancer.

Tan IB et al.

Genome Biology, 2015

25808843 (PubMed )
Supplement: 13059_2015_589_MOESM4_ESM.pdf
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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."