Results for the protein: Q8NFG4

Results for the Protein: Q8NFG4

74751276

201163

FLCN

NCBI, UniProt

FLCN_HUMAN RecName: Full=Folliculin; AltName: Full=BHD skin lesion fibrofolliculoma protein; AltName: Full=Birt-Hogg-Dube syndrome protein

Known Diseases associated with this Protein:
  BIRT-HOGG-DUBE SYNDROME
  BIRT-HOGG-DUBE SYNDROME (BHD)
  COLORECTAL CANCER, SOMATIC
  PRIMARY SPONTANEOUS PNEUMOTHORAX (PSP)
  RENAL CELL CARCINOMA (RCC)

8

7

3

0

12

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Default View: Folliculin - pfam11704	Swiss-Prot Protein: Q8NFG4 Identical to: NP_659434 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_025360	Polymorphism	p.ALA444SER	N/A
Swiss-Prot	VAR_025361	Polymorphism	p.ALA445THR	N/A
Swiss-Prot	VAR_025357	Polymorphism	p.ALA238VAL	N/A
Swiss-Prot	VAR_066026	Disease	p.ARG239CYS	Renal cell carcinoma (RCC)
Swiss-Prot	VAR_066027	Polymorphism	p.ARG362CYS	N/A
Swiss-Prot	VAR_025358	Polymorphism	p.ARG320GLN	N/A
Swiss-Prot	VAR_025359	Polymorphism	p.ARG392GLY	N/A
Swiss-Prot	VAR_066024	Disease	p.GLU132LYS	Primary spontaneous pneumothorax (PSP)
Swiss-Prot	VAR_066028	Disease	p.HIS429TYR	Primary spontaneous pneumothorax (PSP)
Swiss-Prot	VAR_066029	Disease	p.LYS508ARG	Birt-Hogg-Dube syndrome (BHD)
Swiss-Prot	VAR_066023	Disease	p.SER108ILE	Birt-Hogg-Dube syndrome (BHD)
Swiss-Prot	VAR_025356	Polymorphism	p.SER79TRP	N/A
OMIM	607273.0008	Disease	p.ALA445THR	COLORECTAL CANCER, SOMATIC
OMIM	607273.0007	Disease	p.SER79TRP	COLORECTAL CANCER, SOMATIC
OMIM	607273.0005	Disease	p.TYR463TER	BIRT-HOGG-DUBE SYNDROME

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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