Results for the protein: P15923

Results for the Protein: P15923

135655

6929

TCF3

NCBI, UniProt

TFE2_HUMAN RecName: Full=Transcription factor E2-alpha; AltName: Full=Class B basic helix-loop-helix protein 21; Short=bHLHb21; AltName: Full=Immunoglobulin enhancer-binding factor E12/E47; AltName: Full=Immunoglobulin transcription factor 1; AltName: Full=Kappa-E2-binding factor; AltName: Full=Transcription factor 3; Short=TCF-3; AltName: Full=Transcription factor ITF-1

			0 6 0 2 4

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Default View: HLH - smart00353	Swiss-Prot Protein: P15923 Identical to: NP_003191 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_036396	Polymorphism	p.ALA8VAL	N/A
Swiss-Prot	VAR_049554	Polymorphism	p.GLY431SER	N/A
dbSNP	rs2074888	Polymorphism	p.GLY492VAL	N/A
Swiss-Prot	VAR_049552	Polymorphism	p.LEU120PRO	N/A
dbSNP	rs1052692	Polymorphism	p.PRO431THR	N/A
Swiss-Prot	VAR_049553	Polymorphism	p.THR198ALA	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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