Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S2283*
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ATM

NM_000051.4:p.S2283*

Associated Papers

POLE exonuclease domain mutations in endometrial carcinoma: a case report.

Pasciuto MP et al.

Pathologica, 2023

Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Boot A et al.

Genome Research, 2020

32661091 (PubMed )
Supplement: supp_gr.255620.119_Supplemental_Table_S2.xlsx › Sheet1

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s020.xlsx › Figure.2.Drivers.Edited
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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."