Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.R10R
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EXT2

NM_207122.2:p.R10R

Associated Papers

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

A Novel Intronic Splicing Mutation in the EXT2 Gene of a Chinese Family with Multiple Osteochondroma.

Guo X et al.

Genetic Testing and Molecular Biomarkers, 2021

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 › all_gene_variants

Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas.

Guo X et al.

The Tohoku Journal of Experimental Medicine, 2017

Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.

Cao L et al.

Oncology Reports, 2014

Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years.

Guo XL et al.

Journal of Huazhong University of Science and Technology. Medical Sciences = Hua Zhong Ke Ji Da Xue Xue Bao. Yi Xue Ying De Wen Ban = Huazhong Keji Daxue Xuebao. Yixue Yingdewen Ban, 2014

One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.

Kojima H et al.

Genetic Testing, 2008

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.

Dobson-Stone C et al.

European Journal of Human Genetics : Ejhg, 2000

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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."