Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.S1272*
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APC

NM_000038.6:p.S1272*

Associated Papers

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

Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.

Khan N et al.

Scientific Reports, 2017

Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions.

Brannon AR et al.

Genome Biology, 2014

25164765 (PubMed )
Supplement: 13059_2014_454_MOESM1_ESM.xlsx › Sheet1

Multiple gynecologic tumors as rare associated phenotypes of FAP/Gardner syndrome in a family with the novel germline mutation in the APC gene.

Kovac M et al.

Clinical Genetics, 2006

First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations.

De Rosa M et al.

Human Mutation, 2004

Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.

Vandrovcová J et al.

Human Mutation, 2004

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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."