Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.S1196*
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APC

NM_000038.6:p.S1196*

Associated Papers

Common gene mutations in 103 authenticated colorectal cancer cell lines.

Kranjec C et al.

Oncogenesis, 2026

41593049 (PubMed )
Supplement: 41389_2026_599_MOESM2_ESM.xlsx › Supplementary_Table_10

Long-read DNA and RNA sequencing for inherited polyposis and colorectal cancer: cryptic intronic variants and multiple mutational mechanisms.

Jacobson AL et al.

Journal of Medical Genetics, 2025

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.

Robinson PS et al.

Nature Communications, 2022

35803914 (PubMed )
Supplement: 41467_2022_31341_MOESM4_ESM.xlsx › Supplementary_Data_Table_3

Genetic landscape of colorectal cancer patients manifesting tumor shrinkage during SARS-Cov-2 infection.

Ottaiano A et al.

Therapeutic Advances in Medical Oncology, 2022

Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.

Kleeman SO et al.

Gut, 2020

31563876 (PubMed )
Supplement: gutjnl-2019-319126supp003.xlsx › Sup_Table_3

Synonymous mutation adenomatous polyposis coliΔ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation‑negative familial adenomatous polyposis.

Liu WQ et al.

Molecular Medicine Reports, 2018

A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.

Pang M et al.

Molecular Medicine Reports, 2018

Investigating polymorphisms by bioinformatics is a potential cost-effective method to screen for germline mutations in Chinese familial adenomatous polyposis patients.

Yang J et al.

Oncology Letters, 2016

Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Friedl W et al.

Hereditary Cancer in Clinical Practice, 2005

Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.

Jones S et al.

Human Molecular Genetics, 2002

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.

Al-Tassan N et al.

Nature Genetics, 2002

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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."