Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.H255R
Back to variants list

FLCN

NM_144997.7:p.H255R

Associated Papers

Case Report: Atypical Nodular Dermatofibrosis and Renal Cysts in a Bichon Frise with a BRCA2 Mutation and No FLCN Mutation.

Lee K et al.

Animals : an Open Access Journal From Mdpi, 2025

PCR-based detection of hereditary mutations in SLC2A9, BTBD17, and NECAP1 among native Korean dog breeds.

Kang M et al.

Journal of Veterinary Science, 2025

40765230 (PubMed )
Supplement: jvs-26-e48-s001.xls › Supplementary_Table_1

Genetics of inherited skin disorders in dogs.

Leeb T et al.

Veterinary Journal (london, England : 1997), 2022

Unilateral renal cystadenocarcinoma and nodular dermatofibrosis in a mixed-breed dog carrying a FLCN gene mutation.

Ciccarelli S et al.

Veterinary Dermatology, 2019

FLCN: The causative gene for Birt-Hogg-Dubé syndrome.

Schmidt LS et al.

Gene, 2018

Genetic testing in veterinary dermatology.

Leeb T et al.

Veterinary Dermatology, 2017

H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferation.

Hasumi H et al.

Human Molecular Genetics, 2017

Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.

Hasumi H et al.

International Journal of Urology : Official Journal of the Japanese Urological Association, 2016

Birt-Hogg-Dube syndrome is a novel ciliopathy.

Luijten MN et al.

Human Molecular Genetics, 2013

Nodular dermatofibrosis in a dog without a renal tumour or a mutation in the folliculin gene.

Zanatta M et al.

Journal of Comparative Pathology, 2013

Inactivation of the FLCN tumor suppressor gene induces TFE3 transcriptional activity by increasing its nuclear localization.

Hong SB et al.

Plos One, 2010

Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-beta signaling.

Hong SB et al.

Molecular Cancer, 2010

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

Wei MH et al.

Human Mutation, 2009

Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.

Woodward ER et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

Toro JR et al.

Journal of Medical Genetics, 2008

Second hits in the FLCN gene in a hereditary renal cancer syndrome in dogs.

Bønsdorff TB et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2008

Abstracts of the Inaugural Birt-Hogg-Dubé (BHD) Symposium. Roskilde, Denmark. September 3, 2008.

Unknown Author

Familial Cancer, 2008

The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe.

van Slegtenhorst M et al.

The Journal of Biological Chemistry, 2007

A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog.

Lingaas F et al.

Human Molecular Genetics, 2003

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."