Results for the protein: NP

Results for the Protein: NP_075561

242332527

65250

C5orf42

NCBI

uncharacterized protein C5orf42 [Homo sapiens]

Known Diseases associated with this Protein:
JOUBERT SYNDROME 17
VARIANT OF UNKNOWN SIGNIFICANCE

4

9

4

9

0

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Default View:	RefSeq Protein: NP_075561 Default View:

Domains found on the Protein

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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs7702892	Polymorphism	p.GLY3062ARG	N/A
dbSNP	rs6859950	Polymorphism	p.ILE1437THR	N/A
dbSNP	rs6884652	Polymorphism	p.ILE2143VAL	N/A
dbSNP	rs10076911	Polymorphism	p.PHE2033CYS	N/A
dbSNP	rs75589774	Polymorphism	p.PRO1794LEU	N/A
dbSNP	rs16903518	Polymorphism	p.PRO2592LEU	N/A
dbSNP	rs79377186	Polymorphism	p.SER1772GLY	N/A
dbSNP	rs76245173	Polymorphism	p.THR1838ALA	N/A
dbSNP	rs73750959	Polymorphism	p.VAL32ILE	N/A
OMIM	614571.0006	Disease	p.ALA1564THR	VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	614571.0004	Disease	p.ARG1602TER	JOUBERT SYNDROME 17
OMIM	614571.0005	Disease	p.ARG2493TER	JOUBERT SYNDROME 17
OMIM	614571.0001	Disease	p.ARG1336TRP	JOUBERT SYNDROME 17

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