Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.A199insFs
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APC

NM_000038.6:p.A199insFs

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_9

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

Yin X et al.

American Journal of Human Genetics, 2024

39357517 (PubMed )
Supplement: mmc2.xlsx › e_Cli-data

No Evidence of Abnormal Expression of Beta-Catenin and Bcl-2 Proteins in Pilomatricoma as One Clinical Feature of Tetrasomy 9p Syndrome.

Charalsawadi C et al.

International Journal of Pediatrics, 2021

34956371 (PubMed )
Supplement: 2612846.f1.pdf

Multiple pilomatrixomas in a survivor of WNT-activated medulloblastoma leading to the discovery of a germline APC mutation and the diagnosis of familial adenomatous polyposis.

Bendelsmith CR et al.

Pediatric Blood & Cancer, 2018

The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations.

De Rosa M et al.

Human Mutation, 2003

Three novel germline mutations in the adenomatous polyposis coli gene.

Scarano MI et al.

Human Mutation, 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."