Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.P2699L
Back to variants list

ATM

NM_000051.4:p.P2699L

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

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

Genetic mutations in HER2-positive breast cancer: possible association with response to trastuzumab therapy.

Zakaria NH et al.

Human Genomics, 2023

Clonal Hematopoiesis and Mosaicism Revealed by a Multi-Tissue Analysis of Constitutional TP53 Status.

Castillo D et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2022

Outcomes of Patients with Metastatic Castration-Resistant Prostate Cancer According to Somatic Damage DNA Repair Gene Alterations.

Neviere Z et al.

Current Oncology (toronto, Ont.), 2022

An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Lin J et al.

Frontiers in Immunology, 2022

36505399 (PubMed )
Supplement: Table_2.xlsx › vars

ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

Putti S et al.

Cancers, 2021

Usefulness of Circulating Tumor DNA in Identifying Somatic Mutations and Tracking Tumor Evolution in Patients With Non-small Cell Lung Cancer.

Roosan MR et al.

Chest, 2021

33878340 (PubMed )
Supplement: mmc1.pdf

Functional significance of U2AF1 S34F mutations in lung adenocarcinomas.

Esfahani MS et al.

Nature Communications, 2019

31836708 (PubMed )
Supplement: 41467_2019_13392_MOESM4_ESM.xlsx › Sheet1

A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis.

Khorrami M et al.

Iranian Journal of Child Neurology, 2019

A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.

Tabatabaiefar MA et al.

Journal of the Neurological Sciences, 2017

Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.

Carney EF et al.

Journal of Immunology (baltimore, Md. : 1950), 2012

Modeling ATM mutant proteins from missense changes confirms retained kinase activity.

Barone G et al.

Human Mutation, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."