Results for the protein: Q8TDI7

Results for the Protein: Q8TDI7

313104275

117532

TMC2

NCBI, UniProt

TMC2_HUMAN RecName: Full=Transmembrane channel-like protein 2; AltName: Full=Transmembrane cochlear-expressed protein 2

			0 7 0 4 3

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Default View: TMC - pfam07810	Swiss-Prot Protein: Q8TDI7 Identical to: NP_542789 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 ↕
dbSNP	rs6050063	Polymorphism	p.ARG123LYS	N/A
dbSNP	rs11908093	Polymorphism	p.GLN205ARG	N/A
Swiss-Prot	VAR_030622	Polymorphism	p.GLU800GLN	N/A
dbSNP	rs6115242	Polymorphism	p.GLU816GLN	N/A
Swiss-Prot	VAR_030621	Polymorphism	p.SER573CYS	N/A
Swiss-Prot	VAR_057283	Polymorphism	p.SER589CYS	N/A
dbSNP	rs34884202	Polymorphism	p.TRP217ARG	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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