Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.S836*
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APC

NM_000038.6:p.S836*

Associated Papers

Germline Variants in Proto-Oncogenes and Tumor Suppressor Genes in Women with Cervical Cancer.

Lenkova K et al.

Biomedicines, 2024

Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.

Shin G et al.

Genome Medicine, 2021

34488871 (PubMed )
Supplement: 13073_2021_958_MOESM2_ESM.xlsx › Table_S15_Variant_annotation

Malignant transformation and genetic alterations are uncoupled in early colorectal cancer progression.

Mamlouk S et al.

Bmc Biology, 2020

32895052 (PubMed )
Supplement: 12915_2020_844_MOESM1_ESM.pdf

Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Ashktorab H et al.

Oncotarget, 2017

29245953 (PubMed )
Supplement: oncotarget-08-99966-s003.xlsx › AA.APC

High-resolution melting analyses for gene scanning of APC, MLH1, MSH2, and MSH6 associated with hereditary colorectal cancer.

Obul J et al.

Genetic Testing and Molecular Biomarkers, 2012

APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.

Filipe B et al.

Clinical Genetics, 2009

Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes.

Emmerson P et al.

Human Mutation, 2003

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

Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

Jones AC et al.

Human Molecular Genetics, 1997

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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."