Varaico: Literature-Extracted Genetic Variants

Gene:AXIN2
Variant:p.G665insFs
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AXIN2

NM_004655.4:p.G665insFs

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

Identification and Functional Analysis of Novel Mutations in AXIN2 and LRP6 Linked With Non-Syndromic Tooth Agenesis.

Luo W et al.

Molecular Genetics & Genomic Medicine, 2025

Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.

Seo ES et al.

Nature Communications, 2024

39333105 (PubMed )
Supplement: 41467_2024_52128_MOESM4_ESM.xlsx › Supple_Data3_TARGET_CPG_list

Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.

López Rivera JJ et al.

Journal of Personalized Medicine, 2024

39338229 (PubMed )
Supplement: jpm-14-00975-s001.zip › SUPPLEMENTARY_DATA.xlsx › Table_S2

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-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.

Roht L et al.

Molecular Genetics & Genomic Medicine, 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

Clinical and genetic characteristics in lymphoma patients with a second solid malignancy.

Zhou D et al.

Frontiers in Oncology, 2023

37546421 (PubMed )
Supplement: DataSheet_1.xlsx › Sheet1

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

Chan JM et al.

Familial Cancer, 2022

Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?

Jensen JM et al.

Familial Cancer, 2022

An American patient with polyposis carrying a Scandinavian AXIN2 pathogenic variant.

Macklin-Mantia SK et al.

Hereditary Cancer in Clinical Practice, 2020

A novel AXIN2 gene mutation in sagittal synostosis.

Yilmaz E et al.

American Journal of Medical Genetics. Part A, 2018

The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.

Williams MA et al.

Genes, 2018

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

AXIN1 and AXIN2 variants in gastrointestinal cancers.

Mazzoni SM et al.

Cancer Letters, 2014

Genetic basis of dental agenesis--molecular genetics patterning clinical dentistry.

Chhabra N et al.

Medicina Oral, Patologia Oral Y Cirugia Bucal, 2014

Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia.

Wong S et al.

Archives of Oral Biology, 2014

Sequence analysis of PAX9, MSX1 and AXIN2 genes in a Chinese oligodontia family.

Wang J et al.

Archives of Oral Biology, 2011

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.

Bergendal B et al.

American Journal of Medical Genetics. Part A, 2011

Mutations of the Wnt antagonist AXIN2 (Conductin) result in TCF-dependent transcription in medulloblastomas.

Koch A et al.

International Journal of Cancer, 2007

Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.

Lejeune S et al.

Human Mutation, 2006

Germline mutations of AXIN2 are not associated with nonsyndromic colorectal cancer.

Peterlongo P et al.

Human Mutation, 2005

Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.

Lammi L et al.

American Journal of Human Genetics, 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."