Results for the protein: Q96GP6

Results for the Protein: Q96GP6

380865486

91179

SCARF2

NCBI, UniProt

SREC2_HUMAN RecName: Full=Scavenger receptor class F member 2; AltName: Full=SRECRP-1; AltName: Full=Scavenger receptor expressed by endothelial cells 2 protein; Short=SREC-II; Flags: Precursor

Known Diseases associated with this Protein:
VAN DEN ENDE-GUPTA SYNDROME
VAN DEN ENDE-GUPTA SYNDROME (VDEGS)

2

8

1

3

6

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Default View: EGF_2 - pfam07974	Swiss-Prot Protein: Q96GP6 Identical to: NP_699165 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_015150	Polymorphism	p.ALA819GLY	N/A
dbSNP	rs874101	Polymorphism	p.ALA837GLY	N/A
Swiss-Prot	VAR_035837	Polymorphism	p.ARG499CYS	N/A
Swiss-Prot	VAR_015148	Polymorphism	p.ASP777GLU	N/A
Swiss-Prot	VAR_065302	Disease	p.CYS258TYR	Van den Ende-Gupta syndrome (VDEGS)
Swiss-Prot	VAR_055777	Polymorphism	p.HIS522LEU	N/A
dbSNP	rs361566	Polymorphism	p.PRO174SER	N/A
dbSNP	rs2241230	Polymorphism	p.THR425SER	N/A
Swiss-Prot	VAR_015149	Polymorphism	p.VAL778LEU	N/A
OMIM	613619.0001	Disease	p.CYS258TYR	VAN DEN ENDE-GUPTA 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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