Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.G2695C
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ATM

NM_000051.4:p.G2695C

Associated Papers

Prolonged response to PIK3CA inhibition in an advanced hormone-positive breast cancer patient with 3 mutations in the alpha subunit of PI-3 kinase.

Merose R et al.

The Oncologist, 2025

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S14

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

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_14.xlsx › Sheet1

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Moeini Shad T et al.

Frontiers in Immunology, 2021

35095854 (PubMed )
Supplement: DataSheet_1.pdf

Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.

Abdel-Wahab R et al.

Scientific Reports, 2020

33328484 (PubMed )
Supplement: 41598_2020_77939_MOESM1_ESM.xlsx › Sheet1

Efficacy of immunotherapy in lung cancer with co-occurring mutations in NOTCH and homologous repair genes.

Mazzotta M et al.

Journal for Immunotherapy of Cancer, 2020

32759236 (PubMed )
Supplement: jitc-2020-000946supp001.xlsx › all_prediction_score_merged

Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes.

Riaz N et al.

Nature Communications, 2017

29021619 (PubMed )
Supplement: 41467_2017_921_MOESM6_ESM.xlsx › Sheet1

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_1B
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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."