Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L481*
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ATM

NM_000051.4:p.L481*

Associated Papers

Response to DNA-damaging agents and PARP inhibitors in ATM mutated metastatic colorectal cancer: case series.

Eslinger C et al.

Chinese Clinical Oncology, 2025

Molecular and In Silico Analysis of the CHEK2 Gene in Individuals with High Risk of Cancer Predisposition from Türkiye.

Ozdemir O et al.

Cancers, 2024

39594831 (PubMed )
Supplement: cancers-16-03876-s001.zip › TableS2.xlsx › CHEK2_SuppTable2__1_

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.

Richardson ME et al.

American Journal of Human Genetics, 2024

39317201 (PubMed )
Supplement: mmc4.xlsx › Table_S4

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.

Richardson ME et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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: Table1.XLSX › Sheet1

Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.

Yang LP et al.

Cell Reports. Medicine, 2023

37794586 (PubMed )
Supplement: mmc4.xlsx › TCGA_path_oncokb

Metastatic Colorectal Cancer Treatment Response Evaluation by Ultra-Deep Sequencing of Cell-Free DNA and Matched White Blood Cells.

van 't Erve I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36534496 (PubMed )
Supplement: ccr-22-2538_supplementary_tables_s1-s15_suppts1-ts15.xlsx › ST7

Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer.

Borja NA et al.

Frontiers in Oncology, 2023

36865800 (PubMed )
Supplement: DataSheet_1.pdf

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Yngvadottir B et al.

Human Molecular Genetics, 2022

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Magraner-Pardo L et al.

Scientific Reports, 2021

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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."