Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q1331*
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ATM

NM_000051.4:p.Q1331*

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table6.XLSX › Sheet1

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › BRCA1

RAD54B mutations enhance the sensitivity of ovarian cancer cells to poly(ADP-ribose) polymerase (PARP) inhibitors.

Liu P et al.

The Journal of Biological Chemistry, 2022

35952757 (PubMed )
Supplement: mmc3.xls › ATM

Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.

Guan B et al.

Frontiers in Oncology, 2022

35372080 (PubMed )
Supplement: Table_5.xlsx › table_S5

High prevalence of TP53 loss and whole-genome doubling in early-onset colorectal cancer.

Kim JE et al.

Experimental & Molecular Medicine, 2021

33753878 (PubMed )
Supplement: 12276_2021_583_MOESM1_ESM.zip › 210226_BJX6JPRP_EMM2020836R_Supplelemtary_table_merged__1_.xls › Supplementary_Table_3

Analysis of clinically relevant somatic mutations in high-risk head and neck cutaneous squamous cell carcinoma.

Zilberg C et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

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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."