Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.Q185_S186Splc
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FH

NM_000143.4:p.Q185_S186Splc

Associated Papers

Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.

Bates BA et al.

Hgg Advances, 2025

39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts

Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.

Han SH et al.

European Urology Open Science, 2024

38496821 (PubMed )
Supplement: mmc2.xlsx › Table_S6

Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.

Han S et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36712083 (PubMed )
Supplement: media-1.xlsx › eTable.5

The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.

Yang Y et al.

Bmc Urology, 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_ClinVar

Ancestry-specific predisposing germline variants in cancer.

Oak N et al.

Genome Medicine, 2020

Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.

Zhang L et al.

Human Mutation, 2020

Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma.

Carlo MI et al.

Jama Oncology, 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."