rs1010217845

This variant is located in the GBF1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About GBF1

This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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