Results for the protein: NP

Results for the Protein: NP_001139241

224809302

7508

XPC

NCBI

DNA repair protein complementing XP-C cells isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

2

5

2

5

0

Tips:

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Default View: RAD4 - COG5535 Rad4 - pfam03835 BHD_1 - pfam10403 BHD_2 - pfam10404 BHD_3 - pfam10405	RefSeq Protein: NP_001139241 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Rad4	pfam03835	1.3e-46	458	589
BHD_1	pfam10403	6.1e-22	592	645
BHD_2	pfam10404	3.1e-26	647	707
BHD_3	pfam10405	5.3e-47	714	788

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2228000	Polymorphism	p.ALA462VAL	N/A
dbSNP	rs2227999	Polymorphism	p.ARG455HIS	N/A
dbSNP	rs2227998	Polymorphism	p.ARG650SER	N/A
dbSNP	rs2228001	Polymorphism	p.GLN902LYS	N/A
dbSNP	rs1870134	Polymorphism	p.LEU16VAL	N/A
OMIM	613208.0007	Disease	p.ARG542TER	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
OMIM	613208.0001	Disease	p.PRO181HIS	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

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