Results for the protein: O60318

Results for the Protein: O60318

8134564

8888

MCM3AP

NCBI, UniProt

GANP_HUMAN RecName: Full=Germinal-center associated nuclear protein; Short=GANP; AltName: Full=80 kDa MCM3-associated protein; AltName: Full=MCM3 acetylating protein; Short=MCM3AP; AltName: Full=MCM3 acetyltransferase

Known Diseases associated with this Protein:
VARIANT OF UNKNOWN SIGNIFICANCE

1

14

1

3

11

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Default View: SAC3 - COG5079 SAC3_GANP - pfam03399	Swiss-Prot Protein: O60318 Identical to: NP_003897 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SAC3_GANP	pfam03399	4.5e-83	684	909

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_019249	Polymorphism	p.ALA1795THR	N/A
Swiss-Prot	VAR_019251	Polymorphism	p.ALA1941VAL	N/A
Swiss-Prot	VAR_053973	Polymorphism	p.ARG1831CYS	N/A
Swiss-Prot	VAR_019242	Polymorphism	p.ARG333LEU	N/A
Swiss-Prot	VAR_019246	Polymorphism	p.ARG1314TRP	N/A
dbSNP	rs17183220	Polymorphism	p.ASP1449GLU	N/A
Swiss-Prot	VAR_019250	Polymorphism	p.LEU1870ARG	N/A
Swiss-Prot	VAR_035472	Polymorphism	p.LEU409VAL	N/A
Swiss-Prot	VAR_019241	Polymorphism	p.MET288VAL	N/A
Swiss-Prot	VAR_019244	Polymorphism	p.PRO1051LEU	N/A
dbSNP	rs17182566	Polymorphism	p.PRO413LEU	N/A
dbSNP	rs9975588	Polymorphism	p.SER102LEU	N/A
Swiss-Prot	VAR_019248	Polymorphism	p.VAL1576ILE	N/A
Swiss-Prot	VAR_019245	Polymorphism	p.VAL1062MET	N/A
OMIM	603294.0001	Disease	p.GLU915LYS	VARIANT OF UNKNOWN SIGNIFICANCE

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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