Results for the protein: Q92889

Results for the Protein: Q92889

229463004

2072

ERCC4

NCBI, UniProt

XPF_HUMAN RecName: Full=DNA repair endonuclease XPF; AltName: Full=DNA excision repair protein ERCC-4; AltName: Full=DNA repair protein complementing XP-F cells; AltName: Full=Xeroderma pigmentosum group F-complementing protein

Known Diseases associated with this Protein:
  FANCONI ANEMIA COMPLEMENTATION GROUP Q (FANCQ)
  FANCONI ANEMIA, COMPLEMENTATION GROUP Q
  XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP F (XP-F)
  XERODERMA PIGMENTOSUM TYPE F/COCKAYNE SYNDROME (XPF/CS)
  XERODERMA PIGMENTOSUM, TYPE F
  XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
  XFE PROGEROID SYNDROME
  XFE PROGEROID SYNDROME (XFEPS)

20

14

6

2

26

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Default View: MUS81 - COG1948 ERCC4 - pfam02732	Swiss-Prot Protein: Q92889 Identical to: NP_005227 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MUS81	COG1948	3.4e-50	649	916
ERCC4	pfam02732	1.5e-30	683	763

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_057479	Polymorphism	p.ALA860ASP	N/A
Swiss-Prot	VAR_014769	Polymorphism	p.ALA168VAL	N/A
dbSNP	rs1800067	Polymorphism	p.ARG415GLN	N/A
Swiss-Prot	VAR_008202	Disease	p.ARG490GLN	Xeroderma pigmentosum complementation group F (XP-F)
Swiss-Prot	VAR_034802	Disease	p.ARG153PRO	XFE progeroid syndrome (XFEPS)
Swiss-Prot	VAR_070089	Disease	p.ARG689SER	Fanconi anemia complementation group Q (FANCQ)
Swiss-Prot	VAR_013397	Polymorphism	p.ARG576THR	N/A
Swiss-Prot	VAR_008201	Disease	p.ARG454TRP	Xeroderma pigmentosum complementation group F (XP-F)
Swiss-Prot	VAR_070088	Disease	p.ARG589TRP	Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS)
Swiss-Prot	VAR_005850	Disease	p.ARG799TRP	Xeroderma pigmentosum complementation group F (XP-F)
Swiss-Prot	VAR_070087	Disease	p.CYS236ARG	Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS)
Swiss-Prot	VAR_013408	Polymorphism	p.GLU875GLY	N/A
Swiss-Prot	VAR_008203	Disease	p.GLU502LYS	Xeroderma pigmentosum complementation group F (XP-F)
Swiss-Prot	VAR_008204	Disease	p.GLY513ARG	Xeroderma pigmentosum complementation group F (XP-F)
Swiss-Prot	VAR_005849	Polymorphism	p.GLY703ASP	N/A
Swiss-Prot	VAR_014772	Polymorphism	p.GLY912GLU	N/A
Swiss-Prot	VAR_008200	Disease	p.ILE225MET	Xeroderma pigmentosum complementation group F (XP-F)
Swiss-Prot	VAR_008205	Disease	p.ILE529THR	Xeroderma pigmentosum complementation group F (XP-F)
Swiss-Prot	VAR_014771	Polymorphism	p.ILE706THR	N/A
Swiss-Prot	VAR_013399	Polymorphism	p.ILE717THR	N/A
Swiss-Prot	VAR_019201	Polymorphism	p.ILE873VAL	N/A
Swiss-Prot	VAR_070086	Disease	p.LEU230PRO	Fanconi anemia complementation group Q (FANCQ)
Swiss-Prot	VAR_013398	Disease	p.LEU608PRO	Xeroderma pigmentosum complementation group F (XP-F)
Swiss-Prot	VAR_013395	Polymorphism	p.PRO379SER	N/A
Swiss-Prot	VAR_057478	Polymorphism	p.SER768PHE	N/A
dbSNP	rs2020955	Polymorphism	p.SER662PRO	N/A
Swiss-Prot	VAR_008206	Disease	p.THR567ALA	Xeroderma pigmentosum complementation group F (XP-F)
Swiss-Prot	VAR_057477	Polymorphism	p.VAL33LEU	N/A
OMIM	133520.0003	Disease	p.ARG153PRO	XFE PROGEROID SYNDROME
OMIM	133520.0005	Disease	p.ARG689SER	FANCONI ANEMIA, COMPLEMENTATION GROUP Q
OMIM	133520.0010	Disease	p.ARG589TRP	XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
OMIM	133520.0002	Disease	p.ARG788TRP	XERODERMA PIGMENTOSUM, TYPE F
OMIM	133520.0008	Disease	p.CYS236ARG	XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
OMIM	133520.0007	Disease	p.LEU230PRO	FANCONI ANEMIA, COMPLEMENTATION GROUP Q

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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