Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E2444K
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ATM

NM_000051.4:p.E2444K

Associated Papers

Single-cell sequencing revealed the recurrence causes of ETV6:RUNX1 fusion-positive B-ALL in children.

Guan G et al.

Molecular and Cellular Probes, 2025

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

Comprehensive genetic variant analysis reveals combination of KRAS and LRP1B as a predictive biomarker of response to immunotherapy in patients with non-small cell lung cancer.

Eklund EA et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2025

40011914 (PubMed )
Supplement: 13046_2025_3342_MOESM6_ESM.xlsx › VUS_

Multiplexed in vivo base editing identifies functional gene-variant-context interactions.

Acosta J et al.

Biorxiv : the Preprint Server for Biology, 2025

40060482 (PubMed )
Supplement: media-4.xlsx › Table_S2A

Ovarian squamous cell carcinoma associated with teratoma: a report of six cases with genomic analysis.

Liang Y et al.

Pathology, 2023

Relevance of ATM Status in Driving Sensitivity to DNA Damage Response Inhibitors in Patient-Derived Xenograft Models.

Karmokar A et al.

Cancers, 2023

Targeted sequencing of crucial cancer causing genes of breast cancer in Saudi patients.

Alanazi M et al.

Saudi Journal of Biological Sciences, 2020

Phase and context shape the function of composite oncogenic mutations.

Gorelick AN et al.

Nature, 2020

32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations

Cryo-EM Structure of Nucleotide-Bound Tel1ATM Unravels the Molecular Basis of Inhibition and Structural Rationale for Disease-Associated Mutations.

Yates LA et al.

Structure (london, England : 1993), 2020

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered

Molecular signaling in multiple myeloma: association of RAS/RAF mutations and MEK/ERK pathway activation.

Xu J et al.

Oncogenesis, 2017

28504689 (PubMed )
Supplement: oncsis201736x2.pdf

A Pilot Study of Clinical Targeted Next Generation Sequencing for Prostate Cancer: Consequences for Treatment and Genetic Counseling.

Cheng HH et al.

The Prostate, 2016

Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients.

Kortuem KM et al.

Blood Cancer Journal, 2016

26918361 (PubMed )
Supplement: bcj20161x1.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."