Results for the protein: Q01831

Results for the Protein: Q01831

296453081

7508

XPC

NCBI, UniProt

XPC_HUMAN RecName: Full=DNA repair protein complementing XP-C cells; AltName: Full=Xeroderma pigmentosum group C-complementing protein; AltName: Full=p125

Known Diseases associated with this Protein:
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP C (XP-C)
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

4

16

2

5

13

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Default View: RAD4 - COG5535 Rad4 - pfam03835 BHD_1 - pfam10403 BHD_2 - pfam10404 BHD_3 - pfam10405	Swiss-Prot Protein: Q01831 Identical to: NP_004619 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Rad4	pfam03835	1.3e-46	495	626
BHD_1	pfam10403	6.1e-22	629	682
BHD_2	pfam10404	3.1e-26	684	744
BHD_3	pfam10405	5.3e-47	751	825

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2228000	Polymorphism	p.ALA499VAL	N/A
Swiss-Prot	VAR_018897	Polymorphism	p.ARG314GLN	N/A
dbSNP	rs2227999	Polymorphism	p.ARG492HIS	N/A
Swiss-Prot	VAR_018902	Polymorphism	p.ARG671HIS	N/A
dbSNP	rs2227998	Polymorphism	p.ARG687SER	N/A
Swiss-Prot	VAR_057476	Polymorphism	p.CYS514SER	N/A
Swiss-Prot	VAR_018901	Polymorphism	p.GLN632GLU	N/A
dbSNP	rs2228001	Polymorphism	p.GLN939LYS	N/A
Swiss-Prot	VAR_018895	Polymorphism	p.LEU48PHE	N/A
dbSNP	rs1870134	Polymorphism	p.LEU16VAL	N/A
Swiss-Prot	VAR_018896	Polymorphism	p.LYS86ARG	N/A
Swiss-Prot	VAR_059963	Polymorphism	p.LYS511GLN	N/A
Swiss-Prot	VAR_018904	Polymorphism	p.LYS928GLN	N/A
Swiss-Prot	VAR_018900	Polymorphism	p.MET513ILE	N/A
Swiss-Prot	VAR_057475	Polymorphism	p.PHE287CYS	N/A
Swiss-Prot	VAR_005846	Disease	p.PRO334HIS	Xeroderma pigmentosum complementation group C (XP-C)
Swiss-Prot	VAR_018903	Polymorphism	p.THR689MET	N/A
Swiss-Prot	VAR_064039	Disease	p.TRP690SER	Xeroderma pigmentosum complementation group C (XP-C)
OMIM	613208.0007	Disease	p.ARG579TER	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
OMIM	613208.0001	Disease	p.PRO218HIS	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

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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