Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.N340K
Back to variants list

FH

NM_000143.4:p.N340K

Associated Papers

Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata.

Kipnis LM et al.

Cancer Prevention Research (philadelphia, Pa.), 2024

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

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_BRAVO

Detailed Morphologic and Immunohistochemical Characterization of Myomectomy and Hysterectomy Specimens From Women With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).

Chan E et al.

The American Journal of Surgical Pathology, 2019

Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients.

Joseph NM et al.

The American Journal of Surgical Pathology, 2015

Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry.

Chen YB et al.

The American Journal of Surgical Pathology, 2014

Structural basis of fumarate hydratase deficiency.

Picaud S et al.

Journal of Inherited Metabolic Disease, 2011

The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.

Bayley JP et al.

Bmc Medical Genetics, 2008

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."