Varaico: Literature-Extracted Genetic Variants

Gene:AXIN2
Variant:p.W663*
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AXIN2

NM_004655.4:p.W663*

Associated Papers

Two novel AXIN2 variants in isolated tooth agenesis and the AXIN2-associated tooth agenesis pattern.

Geng C et al.

Bmc Oral Health, 2025

Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.

Aceves-Ewing NM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia.

Broekema MF et al.

Hereditary Cancer in Clinical Practice, 2023

AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.

Leclerc J et al.

Genes, Chromosomes & Cancer, 2023

Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.

Chan JM et al.

Familial Cancer, 2022

Molecular profiling of basal cell carcinomas in young patients.

Abi Karam M et al.

Bmc Medical Genomics, 2021

34284772 (PubMed )
Supplement: 12920_2021_1030_MOESM2_ESM.xlsx › Annex_2

Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma.

Macklin-Mantia SK et al.

Bmc Medical Genetics, 2020

Functional analysis of a novel missense mutation in AXIN2 associated with non-syndromic tooth agenesis.

Yue H et al.

European Journal of Oral Sciences, 2016

An AXIN2 Mutant Allele Associated With Predisposition to Colorectal Neoplasia Has Context-Dependent Effects on AXIN2 Protein Function.

Mazzoni SM et al.

Neoplasia (new York, N.y.), 2015

AXIN1 and AXIN2 variants in gastrointestinal cancers.

Mazzoni SM et al.

Cancer Letters, 2014

AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.

Marvin ML et al.

American Journal of Medical Genetics. Part A, 2011

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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."