Varaico: Literature-Extracted Genetic Variants

Gene:AXIN2
Variant:p.L688L
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AXIN2

NM_004655.4:p.L688L

Associated Papers

A rare deleterious missense mutation in the AXIN2 gene in Chinese women with polycystic ovary syndrome.

Zhang Y et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2025

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3C

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

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

36502525 (PubMed )
Supplement: GCC-62-210-s001.xlsx › AXIN2_variants

Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.

Sohn SH et al.

Cancers, 2022

35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › SNU638

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Targeted sequencing of crucial cancer causing genes of breast cancer in Saudi patients.

Alanazi M et al.

Saudi Journal of Biological Sciences, 2020

A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Jia S et al.

Bmc Medical Genetics, 2018

29929473 (PubMed )
Supplement: 12881_2018_605_MOESM2_ESM.xlsx › raw_data

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

Williams MA et al.

Genes, 2018

Association study between genetic variations in Axin2 gene and lung cancer risk in North Indian population: A multiple interaction analysis.

Bahl C et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2017

Axis inhibition protein 2 polymorphisms may be a risk factor for families with isolated oligodontia.

Qin H et al.

Molecular Medicine Reports, 2015

Complex analysis of multiple single nucleotide polymorphisms as putative risk factors of tooth agenesis in the Hungarian population.

Jobbágy-Óvári G et al.

Acta Odontologica Scandinavica, 2014

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s007.pdf

AXIN2 polymorphism and its association with prostate cancer in a Turkish population.

Pinarbasi E et al.

Medical Oncology (northwood, London, England), 2011

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

Wang J et al.

Archives of Oral Biology, 2011

Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis.

Mostowska A et al.

Journal of Human Genetics, 2006

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

Peterlongo P et al.

Human Mutation, 2005

AXIN2 polymorphism and its association with astrocytoma in a Turkish population.

Gunes EG et al.

Molecular Medicine Reports, 0

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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."