Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.L460delFs
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FLCN

NM_144997.7:p.L460delFs

Associated Papers

GPNMB Expression Identifies FLCN -Associated Eosinophilic Renal Tumors With Heterogeneous Clinicopathologic Spectrum and Gene Expression Profiles.

Xia QY et al.

The American Journal of Surgical Pathology, 2025

Renal Neoplasia in Birt-Hogg-Dubé Syndrome: Integrated Histopathologic, Bulk, and Single-cell Transcriptomic Analysis.

Gupta S et al.

European Urology, 2025

Inherited predisposition to pneumothorax: estimating the frequency of Birt-Hogg-Dubé syndrome from genomics and population cohorts.

Yngvadottir B et al.

Thorax, 2025

40210444 (PubMed )
Supplement: thorax-80-8-s001.pdf

Clinically Sporadic Folliculin -mutated Renal Epithelial Neoplasms Represent a Mixture of True Somatic Folliculin -mutated and Occult Birt-Hogg-Dubé Syndrome-associated Cases : Morphologic and Molecular Overlap With TSC/MTOR -mutated Eosinophilic Renal Neoplasms and MiT Family Translocation Renal Cell Carcinoma.

Argani P et al.

The American Journal of Surgical Pathology, 2025

Prevalence of germline mutations in cancer susceptibility genes in Chinese patients with renal cell carcinoma.

Feng H et al.

Translational Andrology and Urology, 2023

36915884 (PubMed )
Supplement: tau-12-02-308-supplementary.pdf

The clinical characteristics of East Asian patients with Birt-Hogg-Dubé syndrome.

Guo T et al.

Annals of Translational Medicine, 2020

Sporadic renal angiomyolipoma in a patient with Birt-Hogg-Dubé: chaperones in pathogenesis.

Sager RA et al.

Oncotarget, 2018

Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.

Hou X et al.

Bmc Medical Genetics, 2018

Birt-Hogg-Dubé syndrome detected incidentally by asymptomatic bilateral pneumothorax in health screening: a case of a young Japanese woman.

Miura K et al.

Surgical Case Reports, 2015

Birt-Hogg-Dube syndrome: clinicopathological features of the lung.

Furuya M et al.

Journal of Clinical Pathology, 2013

Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathologic and immunohistochemical study of 9 families.

Furuya M et al.

The American Journal of Surgical Pathology, 2012

Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.

Maffé A et al.

Clinical Genetics, 2011

[Birt-Hogg-Dubé syndrome].

Koga S et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2010

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

Lim DH et al.

Human Mutation, 2010

The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.

Wei MH et al.

Human Mutation, 2009

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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."