Results for the protein: O14948

Results for the Protein: O14948

74705481

22797

TFEC

NCBI, UniProt

TFEC_HUMAN RecName: Full=Transcription factor EC; Short=TFE-C; AltName: Full=Class E basic helix-loop-helix protein 34; Short=bHLHe34; AltName: Full=Transcription factor EC-like; Short=hTFEC-L

			0 4 0 1 3

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Default View: HLH - cd00083 HLH - pfam00010 HLH - smart00353 DUF3371 - pfam11851	Swiss-Prot Protein: O14948 Identical to: NP_036384 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HLH	pfam00010	3.3e-15	140	193
HLH	smart00353	2.3e-17	145	198
DUF3371	pfam11851	9.9e-56	225	345

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs34738022	Polymorphism	p.ASN19LYS	N/A
Swiss-Prot	VAR_037661	Polymorphism	p.GLN6HIS	N/A
Swiss-Prot	VAR_037662	Polymorphism	p.GLY100SER	N/A
Swiss-Prot	VAR_037663	Polymorphism	p.LEU146VAL	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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