Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.H235Y
Back to variants list

FH

NM_000143.4:p.H235Y

Associated Papers

AKR1B10 Is a New Sensitive and Specific Marker for Fumarate Hydratase-Deficient Renal Cell Carcinoma.

Zheng L et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023

Genomic profiles of renal cell carcinoma in a small Chinese cohort.

Tai S et al.

Frontiers in Oncology, 2023

37427096 (PubMed )
Supplement: Table_1.xls › Sheet1

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_COSMIC

Radical nephrectomy and regional lymph node dissection for locally advanced type 2 papillary renal cell carcinoma in an at-risk individual from a family with hereditary leiomyomatosis and renal cell cancer: a case report.

Kamai T et al.

Bmc Cancer, 2016

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."