Results for the protein: O75603

Results for the Protein: O75603

33301140

9247

GCM2

NCBI, UniProt

GCM2_HUMAN RecName: Full=Chorion-specific transcription factor GCMb; Short=hGCMb; AltName: Full=GCM motif protein 2; AltName: Full=Glial cells missing homolog 2

Known Diseases associated with this Protein:
HYPOPARATHYROIDISM, FAMILIAL ISOLATED
HYPOPARATHYROIDISM, FAMILIAL ISOLATED (FIH)

6

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2

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8

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Default View:	Swiss-Prot Protein: O75603 Identical to: NP_004743 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_049131	Polymorphism	p.ALA117VAL	N/A
Swiss-Prot	VAR_058044	Disease	p.ARG47LEU	Hypoparathyroidism, familial isolated (FIH)
Swiss-Prot	VAR_065495	Disease	p.ARG110TRP	Hypoparathyroidism, familial isolated (FIH)
Swiss-Prot	VAR_065498	Disease	p.ASN502HIS	Hypoparathyroidism, familial isolated (FIH)
Swiss-Prot	VAR_049130	Polymorphism	p.ASP53ASN	N/A
dbSNP	rs7744163	Polymorphism	p.GLY203SER	N/A
Swiss-Prot	VAR_058045	Disease	p.GLY63SER	Hypoparathyroidism, familial isolated (FIH)
Swiss-Prot	VAR_049133	Polymorphism	p.ILE227VAL	N/A
dbSNP	rs61734278	Polymorphism	p.MET354VAL	N/A
dbSNP	rs61734277	Polymorphism	p.TYR282ASP	N/A
Swiss-Prot	VAR_065497	Polymorphism	p.VAL382MET	N/A
OMIM	603716.0002	Disease	p.ARG47LEU	HYPOPARATHYROIDISM, FAMILIAL ISOLATED
OMIM	603716.0003	Disease	p.GLY63SER	HYPOPARATHYROIDISM, FAMILIAL ISOLATED

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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