Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.E1257*
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APC

NM_000038.6:p.E1257*

Associated Papers

Colibactin mutational signatures in NTHL1 tumor syndrome and MUTYH associated polyposis patients.

Terlouw D et al.

Genes, Chromosomes & Cancer, 2024

Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.

Robinson PS et al.

Nature Genetics, 2021

34594041 (PubMed )
Supplement: 41588_2021_930_MOESM3_ESM.xlsx › Supplementary_Table_3

Phase and context shape the function of composite oncogenic mutations.

Gorelick AN et al.

Nature, 2020

32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.

Viel A et al.

Ebiomedicine, 2017

28551381 (PubMed )
Supplement: mmc7.pdf

Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients.

Marabelli M et al.

Genetic Testing and Molecular Biomarkers, 2016

A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history.

Truta B et al.

Familial Cancer, 2005

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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."