Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.A350T
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ATM

NM_000051.4:p.A350T

Associated Papers

ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker.

Thorvaldsdottir B et al.

Leukemia, 2025

40275070 (PubMed )
Supplement: 41375_2025_2615_MOESM2_ESM.xlsx › Supplemental_Table_S3

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc6.xlsx › ST6B.Trans_germ_som

Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.

Chow RD et al.

Npj Precision Oncology, 2024

39427061 (PubMed )
Supplement: 41698_2024_710_MOESM2_ESM.xlsx › S3

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_1.xlsx › Sheet1

Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Gemović B et al.

Plos One, 2021

33395407 (PubMed )
Supplement: pone.0244948.s001.pdf

Variations in ATM protein expression during normal lymphoid differentiation and among B-cell-derived neoplasias.

Starczynski J et al.

The American Journal of Pathology, 2003

ATM mutations in sporadic lymphoid tumours.

Stankovic T et al.

Leukemia & Lymphoma, 2002

Ataxia telangiectasia mutated-deficient B-cell chronic lymphocytic leukemia occurs in pregerminal center cells and results in defective damage response and unrepaired chromosome damage.

Stankovic T et al.

Blood, 2002

Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia.

Stankovic T et al.

Lancet (london, England), 1999

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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."