Results for the protein: O15527

Results for the Protein: O15527

12643548

4968

OGG1

NCBI, UniProt

OGG1_HUMAN RecName: Full=N-glycosylase/DNA lyase; Includes: RecName: Full=8-oxoguanine DNA glycosylase; Includes: RecName: Full=DNA-(apurinic or apyrimidinic site) lyase; Short=AP lyase

Known Diseases associated with this Protein:
RENAL CELL CARCINOMA, CLEAR CELL, SOMATIC

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11

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9

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Default View: OGG_N - pfam07934 ENDO3c - smart00478	Swiss-Prot Protein: O15527 Identical to: NP_002533 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ENDO3c	smart00478	2.9e-31	146	316

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_024832	Polymorphism	p.ALA85SER	N/A
Swiss-Prot	VAR_018890	Polymorphism	p.ALA288VAL	N/A
Swiss-Prot	VAR_024833	Polymorphism	p.ARG131GLN	N/A
dbSNP	rs1805373	Polymorphism	p.ARG229GLN	N/A
Swiss-Prot	VAR_009519	Polymorphism	p.ARG46GLN	N/A
Swiss-Prot	VAR_009520	Polymorphism	p.ARG154HIS	N/A
Swiss-Prot	VAR_018891	Polymorphism	p.ASP322ASN	N/A
Swiss-Prot	VAR_024831	Polymorphism	p.GLY12GLU	N/A
dbSNP	rs1052133	Polymorphism	p.SER326CYS	N/A
Swiss-Prot	VAR_024834	Polymorphism	p.SER232THR	N/A
Swiss-Prot	VAR_014488	Polymorphism	p.SER320THR	N/A
OMIM	601982.0001	Disease	p.ARG46GLN	RENAL CELL CARCINOMA, CLEAR CELL, SOMATIC

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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