Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.D341N
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FH

NM_000143.4:p.D341N

Associated Papers

Integrated morphological, immunohistochemical, and genomic profiling identifies uterine leiomyoma patients with hereditary leiomyomatosis and renal cell cancer syndrome: a comprehensive analysis of 252 cases.

Liu Y et al.

The Journal of Pathology, 2026

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

Ge X et al.

Molecular Cell, 2022

A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.

Yagi Y et al.

Human Genome Variation, 2022

35034951 (PubMed )
Supplement: 41439_2021_180_MOESM1_ESM.pdf

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

Novel missense mutation in the FH gene in familial renal cell cancer patients lacking cutaneous leiomyomas.

Kuwada M et al.

Bmc Research Notes, 2014

No evidence for the role of somatic mutations and promoter hypermethylation of FH gene in the tumorigenesis of nonsyndromic uterine leiomyomas.

Vaidya S et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2012

Exploring a glycolytic inhibitor for the treatment of an FH-deficient type-2 papillary RCC.

Yamasaki T et al.

Nature Reviews. Urology, 2011

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