Rabaptin, RAB GTPase-Binding Effector Protein 1

Alternative Names

RABEP1
Rabaptin 5
RABPT5
RABEP1/PDGFRB Fusion Gene

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Length

104,057 bases

No. of Exons

No. of isoforms

Protein Name

Rab GTPase-binding effector protein 1

Molecular Mass

99290 Da

Amino Acid Count

862

Genomic Location

chr17:5,282,283-5,386,339

Gene Map Locus

17p13.2

Description

Enables protein domain specific binding activity and protein homodimerization activity. Involved in vesicle-mediated transport. Located in endocytic vesicle and endosome. Part of protein-containing complex. [From Alliance of Genome Resources]

Epidemiology in the Arab World

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United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_004703.6:c.2272-407A>G	United Arab Emirates	NC_000017.11:g.5379957A>G				NM_004703.6:c.2272-407A>G; NP_004694.2:p.?	1000940

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=rabep1

Contributors

Pratibha Nair: 12.04.2022

Edit History

Pratibha Nair: 12.04.2022