Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q1276*
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ATM

NM_000051.4:p.Q1276*

Associated Papers

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Munch AK et al.

Cancers, 2025

40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf

Similar genetic profile in early and late stage urothelial tract cancer.

Stormoen DR et al.

Journal of Cancer Research and Clinical Oncology, 2024

38976041 (PubMed )
Supplement: 432_2024_5850_MOESM2_ESM.xlsx › TCGA-cohort

ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.

Zhou Y et al.

Science Advances, 2023

37992168 (PubMed )
Supplement: sciadv.adg2263_sm.pdf

RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.

Long Q et al.

Frontiers in Genetics, 2022

35846154 (PubMed )
Supplement: Table3.XLSX › BLCA_DNA_only

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM3_ESM.xlsx › Sheet1

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

Fahsold R et al.

American Journal of Human Genetics, 2000

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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."