rs374268118

This variant is located in the ARFGEF2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Periventricular heterotopia with microcephaly, autosomal recessive

About ARFGEF2

ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]

View all ARFGEF2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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