Results for the protein: P20813

Results for the Protein: P20813

117205

1555

CYP2B6

NCBI, UniProt

CP2B6_HUMAN RecName: Full=Cytochrome P450 2B6; AltName: Full=1,4-cineole 2-exo-monooxygenase; AltName: Full=CYPIIB6; AltName: Full=Cytochrome P450 IIB1

Known Diseases associated with this Protein:
EFAVIRENZ CENTRAL NERVOUS SYSTEM TOXICITY, SUSCEPTIBILITY TO, INCLUDED
EFAVIRENZ, POOR METABOLISM OF

1

20

1

11

9

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Default View: CypX - COG2124 p450 - pfam00067	Swiss-Prot Protein: P20813 Identical to: NP_000758 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
p450	pfam00067	4.3e-198	31	488

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs8192709	Polymorphism	p.ARG22CYS	N/A
dbSNP	rs3211371	Polymorphism	p.ARG487CYS	N/A
Swiss-Prot	VAR_023566	Polymorphism	p.ARG140GLN	N/A
dbSNP	rs34284776	Polymorphism	p.ARG29PRO	N/A
dbSNP	rs33926104	Polymorphism	p.ARG29SER	N/A
Swiss-Prot	VAR_025209	Polymorphism	p.ASN289LYS	N/A
dbSNP	rs33980385	Polymorphism	p.ASP28GLY	N/A
dbSNP	rs3745274	Polymorphism	p.GLN172HIS	N/A
Swiss-Prot	VAR_023563	Polymorphism	p.GLN21LEU	N/A
dbSNP	rs36060847	Polymorphism	p.GLY99GLU	N/A
Swiss-Prot	VAR_023567	Polymorphism	p.ILE391ASN	N/A
dbSNP	rs28399499	Polymorphism	p.ILE328THR	N/A
dbSNP	rs2279343	Polymorphism	p.LYS262ARG	N/A
Swiss-Prot	VAR_016948	Polymorphism	p.LYS139GLU	N/A
dbSNP	rs3211369	Polymorphism	p.MET459VAL	N/A
Swiss-Prot	VAR_023564	Polymorphism	p.MET46VAL	N/A
Swiss-Prot	VAR_016924	Polymorphism	p.PRO167ALA	N/A
Swiss-Prot	VAR_016928	Polymorphism	p.SER259ARG	N/A
dbSNP	rs33973337	Polymorphism	p.THR26SER	N/A
Swiss-Prot	VAR_025210	Polymorphism	p.THR306SER	N/A
OMIM	123930.0001	Disease	p.GLN172HIS	EFAVIRENZ, POOR METABOLISM OF\|\|EFAVIRENZ CENTRAL NERVOUS SYSTEM TOXICITY, SUSCEPTIBILITY TO, INCLUDED

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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