Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.C117Y
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ATM

NM_000051.4:p.C117Y

Associated Papers

Integrated genomic sequencing in myeloid blast crisis chronic myeloid leukemia (MBC-CML), identified potentially important findings in the context of leukemogenesis model.

Kazemi-Sefat GE et al.

Scientific Reports, 2022

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_8.xlsx › Sheet1

The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias.

Athanasakis E et al.

Oncotarget, 2014

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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."