Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.G326E
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FH

NM_000143.4:p.G326E

Associated Papers

Fumarate hydratase-mutant glioma with giant-cell histology, MSH6 mutation, and hypermutation.

Mafficini A et al.

Journal of Neuropathology and Experimental Neurology, 2025

Long survival in a patient with fumarate hydratase mutation-associated glioma.

Reimann RR et al.

Journal of Neuropathology and Experimental Neurology, 2025

FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.

Wilde BR et al.

Cancer Discovery, 2023

A Clinicopathological and Molecular Analysis of Fumarate Hydratase (FH)-deficient Renal Cell Carcinomas with Heterogeneous Loss of FH Expression.

Anderson WJ et al.

International Journal of Surgical Pathology, 2022

Fumarate inhibits PTEN to promote tumorigenesis and therapeutic resistance of type2 papillary renal cell carcinoma.

Ge X et al.

Molecular Cell, 2022

Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series.

Franke K et al.

Clinical Case Reports, 2022

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Popp B et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › FH_COSMIC
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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."