Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S1455R
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ATM

NM_000051.4:p.S1455R

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

Germline pathogenic variants in unselected Korean men with prostate cancer.

So MK et al.

Investigative and Clinical Urology, 2022

35534218 (PubMed )
Supplement: icu-63-294-s001.xls › Sheet1

Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Kasugai Y et al.

Cancer Science, 2022

35218119 (PubMed )
Supplement: CAS-113-1451-s002.xlsx › Table_S1

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_2.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

An aggressive systemic mastocytosis preceded by ovarian dysgerminoma.

Tsutsumi M et al.

Bmc Cancer, 2020

33246418 (PubMed )
Supplement: 12885_2020_7653_MOESM1_ESM.xlsx › TableS3

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

Momozawa Y et al.

Journal of the National Cancer Institute, 2020

31214711 (PubMed )
Supplement: djz124_supplementary_data.zip › djz124-Suppl_Data › Supplementary_Tables_5_and_6_060619.xlsx › Supplementary_Table_6

Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.

Chunn LM et al.

Frontiers in Genetics, 2020

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Tian Y et al.

Scientific Reports, 2019

31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1

Loss of DNA Damage Response in Neuroblastoma and Utility of a PARP Inhibitor.

Takagi M et al.

Journal of the National Cancer Institute, 2017

Identification and characterization of cancer mutations in Japanese lung adenocarcinoma without sequencing of normal tissue counterparts.

Suzuki A et al.

Plos One, 2013

A putative "hepitype" in the ATM gene associated with chronic lymphocytic leukemia risk.

Martín-Guerrero I et al.

Genes, Chromosomes & Cancer, 2011

Identification and characterization of polymorphic variations of the ataxia telangiectasia mutated (ATM) gene in childhood Hodgkin disease.

Takagi M et al.

Blood, 2004

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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."