Results for the protein: Q9NQR9

Results for the Protein: Q9NQR9

74725272

57818

G6PC2

NCBI, UniProt

G6PC2_HUMAN RecName: Full=Glucose-6-phosphatase 2; Short=G-6-Pase 2; Short=G6Pase 2; AltName: Full=Islet-specific glucose-6-phosphatase catalytic subunit-related protein

			0 6 0 3 3

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Default View: PAP2_glucose_6_phosp - cd03381 PAP2_like - cd01610 PAP2 - pfam01569 acidPPc - smart00014	Swiss-Prot Protein: Q9NQR9 Identical to: NP_066999 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PAP2_like	cd01610	1.6e-17	50	194
PAP2	pfam01569	1.4e-13	53	202
acidPPc	smart00014	3.4e-19	58	194

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_043372	Polymorphism	p.ILE171VAL	N/A
Swiss-Prot	VAR_043376	Polymorphism	p.PRO340LEU	N/A
dbSNP	rs2232328	Polymorphism	p.SER342CYS	N/A
dbSNP	rs2232326	Polymorphism	p.SER324PRO	N/A
Swiss-Prot	VAR_043373	Polymorphism	p.TYR207SER	N/A
dbSNP	rs492594	Polymorphism	p.VAL219LEU	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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