STARD3
StAR related lipid transfer domain containing 3
Summary
This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9972882 | 17:37,807,698 | A/G | — | — |
| rs1448124939 | 17:37,809,804 | A/T | — | uncertain significance |
| rs527648918 | 17:37,809,823 | G/T | — | uncertain significance |
| rs765536882 | 17:37,809,824 | C/G | — | uncertain significance |
| rs140311478 | 17:37,809,825 | G/A | — | uncertain significance |
| rs2543663098 | 17:37,809,926 | G/A | — | uncertain significance |
| rs751173622 | 17:37,809,936 | G/T | — | uncertain significance |
| rs150342077 | 17:37,809,961 | C/T | — | likely benign |
| rs881844 | 17:37,810,218 | C/A | — | — |
| rs200525238 | 17:37,813,276 | C/T | — | uncertain significance |
| rs761571370 | 17:37,813,315 | A/G | — | uncertain significance |
| rs765867336 | 17:37,813,334 | T/C | — | uncertain significance |
| rs11869286 | 17:37,813,856 | G/C | intron variant | — |
| rs999656773 | 17:37,814,040 | T/C | — | uncertain significance |
| rs1877031 | 17:37,814,080 | G/A | missense variant | — |
| rs769561955 | 17:37,814,231 | G/A | — | likely benign |
| rs36015615 | 17:37,814,687 | G/A | synonymous variant | — |
| rs771566450 | 17:37,814,692 | C/T | — | uncertain significance |
| rs374855495 | 17:37,814,697 | G/A | — | uncertain significance |
| rs2543692825 | 17:37,814,719 | T/G | — | uncertain significance |
| rs572642156 | 17:37,814,747 | C/T | — | likely benign |
| rs772239501 | 17:37,814,986 | G/A | — | uncertain significance |
| rs142935105 | 17:37,815,024 | C/T | — | benign |
| rs140449782 | 17:37,815,726 | A/G | — | likely benign |
| rs771727347 | 17:37,815,748 | C/T | — | likely benign |
| rs11658786 | 17:37,815,899 | G/A | regulatory region variant | — |
| rs766071568 | 17:37,816,691 | T/C | — | uncertain significance |
| rs1439186812 | 17:37,816,696 | T/C | — | uncertain significance |
| rs200494007 | 17:37,816,711 | G/A | — | uncertain significance |
| rs761881442 | 17:37,816,727 | T/C | — | uncertain significance |
| rs1045873498 | 17:37,817,105 | G/A | — | uncertain significance |
| rs1349704244 | 17:37,817,290 | G/A | — | uncertain significance |
| rs552844445 | 17:37,817,294 | C/G | — | uncertain significance |
| rs200708532 | 17:37,817,323 | C/T | — | uncertain significance |
| rs375047157 | 17:37,818,542 | C/T | — | uncertain significance |
| rs148526353 | 17:37,818,556 | C/T | — | uncertain significance |
| rs562900538 | 17:37,819,127 | G/A | — | uncertain significance |
| rs151032154 | 17:37,819,132 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.