rs2531282804

This variant is located in the SLC38A9 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About SLC38A9

Enables several functions, including L-amino acid transmembrane transporter activity; cholesterol binding activity; and guanyl-nucleotide exchange factor activity. Involved in carboxylic acid transport; cellular response to amino acid stimulus; and positive regulation of TORC1 signaling. Located in Ragulator complex; late endosome; and lysosomal membrane. Part of FNIP-folliculin RagC/D GAP. [provided by Alliance of Genome Resources, Jul 2025]

View all SLC38A9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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