STX7
syntaxin 7
Summary
The protein encoded by this gene is a syntaxin family membrane receptor involved in vesicle transport. The encoded protein binds alpha-SNAP, an important regulator of transport vesicle fusion. Along with syntaxin 13, this protein plays a role in the ordered fusion of endosomes and lysosomes with the phagosome. [provided by RefSeq, May 2016]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs72996864 | 6:132,770,011 | C/T | 3 prime UTR variant | — |
| rs1136432 | 6:132,772,424 | G/A | 3 prime UTR variant | — |
| rs375044570 | 6:132,781,911 | C/T | — | uncertain significance |
| rs142051551 | 6:132,785,098 | T/A | intron variant | — |
| rs1774492130 | 6:132,785,149 | T/C | — | uncertain significance |
| rs144929397 | 6:132,785,455 | A/G | intron variant | — |
| rs746775126 | 6:132,791,130 | C/T | — | uncertain significance |
| rs200115851 | 6:132,792,682 | T/C | — | uncertain significance |
| rs2482914158 | 6:132,792,736 | G/C | — | uncertain significance |
| rs761610600 | 6:132,793,500 | T/C | — | uncertain significance |
| rs864309676 | 6:132,793,511 | T/G | missense variant | pathogenic |
| rs560360769 | 6:132,795,284 | T/C | — | — |
| rs141003251 | 6:132,812,961 | C/A | intron variant | — |
| rs777920429 | 6:132,824,590 | T/A | — | uncertain significance |
| rs1310681876 | 6:132,824,656 | G/A | — | uncertain significance |
| rs74663634 | 6:132,826,110 | T/C | regulatory region variant | — |
| rs62424931 | 6:132,828,706 | G/A | intron variant | — |
| rs139206404 | 6:132,834,540 | T/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.