Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.E74Splc
Back to variants list

APC

NM_000038.6:p.E74Splc

Associated Papers

Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.

Yang W et al.

Journal of Translational Medicine, 2025

41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.

Spier I et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

Hereditary Colorectal Cancer Diagnosis by Next-Generation Sequencing.

Wen T et al.

Current Protocols, 2023

The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.

Woods MO et al.

Gut, 2010

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."