Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E642*
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ATM

NM_000051.4:p.E642*

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

BMX kinase mediates gilteritinib resistance in FLT3-mutated AML through microenvironmental factors.

Buelow DR et al.

Blood Advances, 2022

35797240 (PubMed )
Supplement: advancesADV2022007952-suppl2.xlsx › Suppl_table_7

Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.

Bonazzi VF et al.

Genome Medicine, 2022

35012638 (PubMed )
Supplement: 13073_2021_990_MOESM2_ESM.xlsx › Supp_Table_6

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Variant_summary

Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.

Caminsky NG et al.

Human Mutation, 2016

Rare variants in the ATM gene and risk of breast cancer.

Goldgar DE et al.

Breast Cancer Research : Bcr, 2011

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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."