SEC14L2
SEC14 like lipid binding 2
Summary
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]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs772340735 | 22:30,793,139 | C/G | — | uncertain significance |
| rs764907036 | 22:30,795,705 | G/A | — | uncertain significance |
| rs187499596 | 22:30,797,754 | T/C | intron variant | — |
| rs5753127 | 22:30,799,789 | G/A | intron variant | — |
| rs189138786 | 22:30,800,710 | G/A | regulatory region variant | — |
| rs577773028 | 22:30,802,370 | G/A | — | uncertain significance |
| rs774075947 | 22:30,803,097 | G/A | — | uncertain significance |
| rs2518402243 | 22:30,803,117 | A/G | — | uncertain significance |
| rs565872473 | 22:30,803,557 | C/A | — | uncertain significance |
| rs77995868 | 22:30,803,579 | A/G | — | benign |
| rs1371975663 | 22:30,805,203 | A/G | — | uncertain significance |
| rs368738792 | 22:30,805,248 | C/G | — | uncertain significance |
| rs1601778622 | 22:30,805,281 | A/T | — | likely benign |
| rs922684947 | 22:30,805,443 | C/A | — | uncertain significance |
| rs150971899 | 22:30,805,445 | G/A | — | uncertain significance |
| rs34367123 | 22:30,807,186 | G/A | intron variant | — |
| rs1934371522 | 22:30,811,783 | C/T | — | uncertain significance |
| rs373330932 | 22:30,811,792 | G/A | — | uncertain significance |
| rs768289226 | 22:30,811,946 | G/A | — | uncertain significance |
| rs182488695 | 22:30,812,022 | G/A | missense variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.