Results for the protein: NP

Results for the Protein: NP_653091

444299651

57082

CASC5

NCBI

protein CASC5 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE

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Default View:	RefSeq Protein: NP_653091 Default View:

Domains found on the Protein

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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2412541	Polymorphism	p.ALA460SER	N/A
dbSNP	rs8040502	Polymorphism	p.ARG910GLY	N/A
dbSNP	rs7177192	Polymorphism	p.ARG43THR	N/A
dbSNP	rs76371152	Polymorphism	p.ILE243VAL	N/A
dbSNP	rs76098847	Polymorphism	p.LYS1644ARG	N/A
dbSNP	rs17747633	Polymorphism	p.LYS1259GLU	N/A
dbSNP	rs11858113	Polymorphism	p.MET572THR	N/A
dbSNP	rs16970911	Polymorphism	p.THR1447ALA	N/A
dbSNP	rs12911738	Polymorphism	p.THR87ALA	N/A
OMIM	609173.0001	Disease	p.MET2015ILE	MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE

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