Varaico: Literature-Extracted Genetic Variants

Gene:IDH1
Variant:p.R100*
Back to variants list

IDH1

NM_005896.4:p.R100*

Associated Papers

A long-term glioblastoma survivor with Lynch syndrome: a case report of tumor molecular and microenvironment characterization.

Zhou Y et al.

Discover Oncology, 2025

40768092 (PubMed )
Supplement: 12672_2025_3361_MOESM1_ESM.xlsx › somatic

An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid.

Blackburn PR et al.

Hgg Advances, 2020

Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.

Woodhouse R et al.

Plos One, 2020

32976510 (PubMed )
Supplement: pone.0237802.s009.zip › Table_9_Accuracy_Short_Variant_Line_Data.xlsx › sheet_1

Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.

Saadeh FS et al.

Plos One, 2020

33237934 (PubMed )
Supplement: pone.0242793.s003.xlsx › Sheet1

Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

Clark TA et al.

The Journal of Molecular Diagnostics : Jmd, 2018

29936259 (PubMed )
Supplement: mmc12.xlsx › Table_S12

Mixed T/myeloid phenotype acute leukemia with rare variants of IDH1 and CEBPA.

Ma Q et al.

Leukemia & Lymphoma, 2013

A nonsense mutation of IDH1 in myelodysplastic syndromes and related disorders.

Yoshida K et al.

Leukemia, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."