Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E299*
Back to variants list

ATM

NM_000051.4:p.E299*

Associated Papers

Unproductive alternative splicing of ATM exon 7: mapping of critical regulatory elements and identification of 34 spliceogenic variants.

Llinares-Burguet I et al.

Journal of Molecular Medicine (berlin, Germany), 2025

Corrigendum to "POLE-Mutated Uterine Carcinosarcomas: A Clinicopathologic and Molecular Study of 11 Cases": [Modern Pathology 38 (2025) 100676].

Hammer PM et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

POLE-Mutated Uterine Carcinosarcomas: A Clinicopathologic and Molecular Study of 11 Cases.

Hammer PM et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3A_CRC_data

[The structure of pathogenic germline variants in colorectal cancer in Moscow patients].

Semenova AB et al.

Arkhiv Patologii, 2023

Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.

Xiu J et al.

Oncotarget, 2016

26933808 (PubMed )
Supplement: oncotarget-07-21556-s001.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."