rs763515150

This variant is located in the RIC1 gene.

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ClinVar annotation

Conflicting Classifications

4 submitters3 publications

Catifa syndrome

About RIC1

Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in several processes, including positive regulation of GTPase activity; regulation of extracellular matrix constituent secretion; and retrograde transport, endosome to Golgi. Located in cytosol and membrane. Part of Ric1-Rgp1 guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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