Results for the protein: Q12772

Results for the Protein: Q12772

116242800

6721

SREBF2

NCBI, UniProt

SRBP2_HUMAN RecName: Full=Sterol regulatory element-binding protein 2; Short=SREBP-2; AltName: Full=Class D basic helix-loop-helix protein 2; Short=bHLHd2; AltName: Full=Sterol regulatory element-binding transcription factor 2; Contains: RecName: Full=Processed sterol regulatory element-binding protein 2

			0 6 0 3 3

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Default View: HLH - cd00083 HLH - pfam00010 HLH - smart00353	Swiss-Prot Protein: Q12772 Identical to: NP_004590 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HLH	pfam00010	2.6e-17	331	381
HLH	smart00353	1.5e-15	336	386

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_036394	Polymorphism	p.ALA273SER	N/A
dbSNP	rs2228313	Polymorphism	p.ARG860SER	N/A
Swiss-Prot	VAR_036395	Polymorphism	p.ASN347LYS	N/A
dbSNP	rs2228314	Polymorphism	p.GLY595ALA	N/A
Swiss-Prot	VAR_049550	Polymorphism	p.MET536LEU	N/A
dbSNP	rs2229440	Polymorphism	p.VAL623MET	N/A

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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