Varaico: Literature-Extracted Genetic Variants

Gene:IDH1
Variant:p.E229K
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IDH1

NM_005896.4:p.E229K

Associated Papers

SOMATIC GENE VARIANTS IN UNRESECTABLE CUTANEOUS MELANOMA CELLS AND DETECTION OF PHARMACOGENOMIC MARKERS: INFLUENCE ON STRATEGY OF EFFECTIVE CANCER TREATMENT.

Gulkovskyi R et al.

Experimental Oncology, 2025

"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.

Hadad S et al.

Acta Neuropathologica, 2023

Molecular Genetic Profile of 300 Japanese Patients with Diffuse Gliomas Using a Glioma-tailored Gene Panel.

Higa N et al.

Neurologia Medico-chirurgica, 2022

36031351 (PubMed )
Supplement: 1349-8029-62-0391-s001.pdf

Integrative Genomic Analyses of Patient-Matched Intracranial and Extracranial Metastases Reveal a Novel Brain-Specific Landscape of Genetic Variants in Driver Genes of Malignant Melanoma.

Váraljai R et al.

Cancers, 2021

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

Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function.

Findlay AS et al.

Disease Models & Mechanisms, 2018

30478029 (PubMed )
Supplement: dmm-11-036426-s1.pdf

LNK mutation studies in blast-phase myeloproliferative neoplasms, and in chronic-phase disease with TET2, IDH, JAK2 or MPL mutations.

Pardanani A et al.

Leukemia, 2010

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