Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Y2791*
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ATM

NM_000051.4:p.Y2791*

Associated Papers

Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.

Wei B et al.

Cancer Medicine, 2023

37930190 (PubMed )
Supplement: CAM4-12-21219-s002.xls › Supplementary_Table_4

Exome Sequencing Reveals Novel Germline Variants in Breast Cancer Patients in the Southernmost Region of Thailand.

Sukpan P et al.

Journal of Personalized Medicine, 2023

Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing.

Triono A et al.

Plos One, 2023

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Kar SP et al.

Nature Genetics, 2022

35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST4

Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Ozgencil M et al.

Plos One, 2021

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

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_1A
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