Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.K230E
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FH

NM_000143.4:p.K230E

Associated Papers

Fumarate hydratase-deficient renal cell carcinoma: a single institution-based study of 29 patients by clinicopathological, immunohistochemical and genetic approaches.

Lee S et al.

Pathology, 2025

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

Wilde BR et al.

Cancer Discovery, 2023

Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients.

Seo JY et al.

Annals of Laboratory Medicine, 2021

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_ClinVar

Treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next generation sequencing data.

Kim JY et al.

Annals of Translational Medicine, 2020

Long-term response of metastatic hereditary leiomyomatosis and renal cell carcinoma syndrome associated renal cell carcinoma to bevacizumab plus erlotinib after temsirolimus and axitinib treatment failures.

Park I et al.

Bmc Urology, 2019

A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).

Bhola PT et al.

Familial Cancer, 2018

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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."