Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.H255Y
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FLCN

NM_144997.7:p.H255Y

Associated Papers

FLCN-mutated eosinophilic renal tumors: clinicopathologic and molecular analysis of five cases highlighting morphologic heterogeneity.

Zhao M et al.

Virchows Archiv : an International Journal of Pathology, 2026

Colon adenocarcinoma and Birt-Hogg-Dubé syndrome in a young patient: case report and exploration of pathologic implications.

Jirka GW et al.

Cancer Biology & Therapy, 2023

Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma.

Jikuya R et al.

Ebiomedicine, 2023

Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes.

Al-Shinnag M et al.

Frontiers in Oncology, 2021

Lymphoplasmacytic lymphoma in a patient with Birt-Hogg-Dubé syndrome.

Kurata K et al.

International Journal of Hematology, 2020

Genetic Alterations in Renal Cancers: Identification of The Mechanisms Underlying Cancer Initiation and Progression and of Therapeutic Targets.

Testa U et al.

Medicines (basel, Switzerland), 2020

Birt-Hogg-Dubé syndrome presenting with spontaneous pneumothorax and extensive pulmonary cysts in the absence of skin lesions or renal pathology.

Kumar K et al.

Bmj Case Reports, 2019

BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes.

Hasumi H et al.

Human Molecular Genetics, 2018

Hereditary kidney cancer syndromes: Genetic disorders driven by alterations in metabolism and epigenome regulation.

Hasumi H et al.

Cancer Science, 2018

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

Schmidt LS et al.

Gene, 2018

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

Hasumi H et al.

Human Molecular Genetics, 2017

Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2.

Hasumi Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 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."