rs757972971
This is a variant in the SLC7A5 gene that changes a proline to an leucine.
▶ClinVar annotation
About SLC7A5
Enables L-amino acid transmembrane transporter activity and secondary active transmembrane transporter activity. Involved in carboxylic acid transport; thyroid hormone transport; and xenobiotic transport. Located in several cellular components, including apical plasma membrane; cytosol; and microvillus membrane. Part of amino acid transport complex. Implicated in cholangiocarcinoma; colon cancer; hepatocellular carcinoma; and lung squamous cell carcinoma. Biomarker of esophagitis; gastrointestinal system cancer (multiple); malignant astrocytoma (multiple); and respiratory system cancer (multiple). [provided by Alliance of Genome Resources, Apr 2025]
View all SLC7A5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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