rs2495644755
This variant is located in the UVRAG gene.
▶ClinVar annotation
About UVRAG
This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity of human colon cancer cells. Chromosomal aberrations involving this gene are associated with left-right axis malformation and mutations in this gene have been associated with colon cancer. [provided by RefSeq, Jul 2008]
View all UVRAG variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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