rs922684947

This variant is located in the SEC14L2 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About SEC14L2

This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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