Results for the protein: NP

Results for the Protein: NP_078872

122891872

79648

MCPH1

NCBI

microcephalin isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE

4

10

4

10

0

Tips:

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Default View: BRCT - pfam00533 BRCT - smart00292 Microcephalin - pfam12258	RefSeq Protein: NP_078872 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
BRCT	smart00292	1.3e-05	4	83
Microcephalin	pfam12258	9.5e-283	225	608

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2922828	Polymorphism	p.ALA212THR	N/A
dbSNP	rs1057090	Polymorphism	p.ALA761VAL	N/A
dbSNP	rs2083914	Polymorphism	p.ARG304ILE	N/A
dbSNP	rs2442513	Polymorphism	p.ARG171SER	N/A
dbSNP	rs930557	Polymorphism	p.ASP314HIS	N/A
dbSNP	rs34121009	Polymorphism	p.ILE264VAL	N/A
dbSNP	rs35590577	Polymorphism	p.PRO288HIS	N/A
dbSNP	rs1057091	Polymorphism	p.PRO828SER	N/A
dbSNP	rs17076894	Polymorphism	p.SER580GLY	N/A
dbSNP	rs12674488	Polymorphism	p.THR682ASN	N/A
OMIM	607117.0005	Disease	p.HIS49GLN	MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE
OMIM	607117.0006	Disease	p.SER72LEU	MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE
OMIM	607117.0007	Disease	p.SER101TER	MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE
OMIM	607117.0001	Disease	p.SER25TER	MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE

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