Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.Q142R
Back to variants list

FH

NM_000143.4:p.Q142R

Associated Papers

First identification of the rare FH-Q185R germline mutation in a Chinese HLRCC patient: A case report and literature review.

Zhang L et al.

Sage Open Medical Case Reports, 2026

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

Benign metastasizing fumarate hydratase (FH)-deficient uterine leiomyomas: clinicopathological and molecular study with first documentation of multi-organ metastases.

Yin X et al.

Virchows Archiv : an International Journal of Pathology, 2024

Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.

Alam NA et al.

The Journal of Molecular Diagnostics : Jmd, 2005

Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.

Chan I et al.

Clinical and Experimental Dermatology, 2005

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.

Alam NA et al.

Human Molecular Genetics, 2003

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.

Tomlinson IP et al.

Nature Genetics, 2002

Durable Response to Pazopanib in a Patient with Fumarate Hydratase-Mutant Tubulocystic Renal Cell Carcinoma.

Othman A et al.

Case Reports in Oncology, 0

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."