Results for the protein: Q86US8

Results for the Protein: Q86US8

91771922

23293

SMG6

NCBI, UniProt

EST1A_HUMAN RecName: Full=Telomerase-binding protein EST1A; AltName: Full=EST1-like protein A; AltName: Full=Ever shorter telomeres 1A; AltName: Full=Smg-6 homolog; AltName: Full=Telomerase subunit EST1A; AltName: Full=hSmg5/7a

			0 11 0 9 2

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Default View: EST1 - pfam10374 PINc - smart00670	Swiss-Prot Protein: Q86US8 Identical to: NP_060045 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PINc	smart00670	1.4e-49	1248	1397

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs903160	Polymorphism	p.ALA972THR	N/A
dbSNP	rs35173108	Polymorphism	p.ARG984CYS	N/A
dbSNP	rs78876170	Polymorphism	p.ARG404HIS	N/A
dbSNP	rs1885986	Polymorphism	p.ARG291PRO	N/A
Swiss-Prot	VAR_050978	Polymorphism	p.ASN575SER	N/A
dbSNP	rs1885987	Polymorphism	p.ASN341THR	N/A
dbSNP	rs114310247	Polymorphism	p.ASP313GLY	N/A
dbSNP	rs35172468	Polymorphism	p.ASP231HIS	N/A
dbSNP	rs58801957	Polymorphism	p.GLU1189LYS	N/A
Swiss-Prot	VAR_018503	Polymorphism	p.HIS1233ARG	N/A
dbSNP	rs216195	Polymorphism	p.LYS294GLN	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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