STX2
syntaxin 2
Summary
The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs13696 | 12:131,274,445 | A/T | — | — |
| rs930065394 | 12:131,283,084 | T/C | — | uncertain significance |
| rs764948299 | 12:131,283,105 | T/C | — | uncertain significance |
| rs1176634818 | 12:131,283,180 | C/T | — | uncertain significance |
| rs7953184 | 12:131,284,852 | T/G | intron variant | — |
| rs758416557 | 12:131,285,721 | T/C | — | uncertain significance |
| rs1951216208 | 12:131,285,832 | T/C | — | uncertain significance |
| rs201007643 | 12:131,285,839 | G/A | — | benign |
| rs4759787 | 12:131,290,180 | A/T | — | — |
| rs7301826 | 12:131,291,101 | C/A | — | — |
| rs36051740 | 12:131,292,722 | G/A | upstream gene variant | — |
| rs149127129 | 12:131,293,210 | C/T | — | uncertain significance |
| rs76596600 | 12:131,293,247 | T/C | — | benign |
| rs748642860 | 12:131,297,516 | C/T | — | uncertain significance |
| rs762486820 | 12:131,297,532 | T/C | — | uncertain significance |
| rs545480897 | 12:131,300,976 | T/C | — | — |
| rs148619251 | 12:131,306,225 | A/G | — | benign |
| rs767436275 | 12:131,306,242 | G/A | — | uncertain significance |
| rs1593182326 | 12:131,311,763 | T/C | — | uncertain significance |
| rs768450252 | 12:131,311,776 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.