Results for the protein: NP

Results for the Protein: NP_689777

35493701

157680

VPS13B

NCBI

vacuolar protein sorting-associated protein 13B isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
COHEN SYNDROME

8

2

8

2

0

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Default View: ATG_C - pfam09333	RefSeq Protein: NP_689777 Default View:

Domains found on the Protein

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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs6468694	Polymorphism	p.GLY3407ARG	N/A
dbSNP	rs7833870	Polymorphism	p.VAL2559ALA	N/A
OMIM	607817.0003	Disease	p.ARG2326TER	COHEN SYNDROME
OMIM	607817.0006	Disease	p.ARG971TER	COHEN SYNDROME
OMIM	607817.0004	Disease	p.ASN2968SER	COHEN SYNDROME
OMIM	607817.0008	Disease	p.GLN3605TER	COHEN SYNDROME
OMIM	607817.0005	Disease	p.GLU1466TER	COHEN SYNDROME
OMIM	607817.0007	Disease	p.GLY2620ASP	COHEN SYNDROME
OMIM	607817.0010	Disease	p.ILE2795THR	COHEN SYNDROME
OMIM	607817.0002	Disease	p.LEU2168ARG	COHEN SYNDROME

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