STX18
syntaxin 18
Summary
This gene encodes a member of the syntaxin family of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs) which is part of a membrane tethering complex that includes other SNAREs and several peripheral membrane proteins, and is involved in vesicular transport between the endoplasmic reticulum (ER) and the Golgi complex. The encoded protein is important for the organization of the smooth, rough, and exit site ER subdomains. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs372039780 | 4:4,421,778 | C/T | — | uncertain significance |
| rs2474386472 | 4:4,421,848 | T/G | — | uncertain significance |
| rs145159636 | 4:4,422,645 | C/G | — | uncertain significance |
| rs141324067 | 4:4,426,923 | A/C | — | uncertain significance |
| rs780875914 | 4:4,426,930 | C/T | — | uncertain significance |
| rs769541021 | 4:4,426,942 | T/A | — | uncertain significance |
| rs2474399634 | 4:4,426,949 | A/G | — | uncertain significance |
| rs528505752 | 4:4,436,514 | G/C | — | uncertain significance |
| rs33952588 | 4:4,436,517 | A/T | missense variant | — |
| rs764685617 | 4:4,436,582 | T/A | — | uncertain significance |
| rs141565171 | 4:4,440,126 | C/T | — | likely benign |
| rs376948946 | 4:4,440,147 | T/C | — | uncertain significance |
| rs61740788 | 4:4,440,183 | T/A | missense variant | — |
| rs769831978 | 4:4,440,186 | G/C | — | uncertain significance |
| rs1396534917 | 4:4,458,961 | G/C | — | uncertain significance |
| rs375609558 | 4:4,459,171 | A/T | — | uncertain significance |
| rs747322825 | 4:4,459,209 | G/T | — | uncertain significance |
| rs149431016 | 4:4,461,207 | T/C | — | uncertain significance |
| rs760917484 | 4:4,473,388 | T/C | — | uncertain significance |
| rs756769803 | 4:4,473,427 | G/C | — | uncertain significance |
| rs8180115 | 4:4,521,915 | T/C | intron variant | — |
| rs12504020 | 4:4,524,826 | T/C | intron variant | — |
| rs12644497 | 4:4,526,248 | A/G | regulatory region variant | — |
| rs137889789 | 4:4,536,543 | A/T | intron variant | — |
| rs1392346962 | 4:4,543,540 | C/T | — | uncertain significance |
| rs2474612738 | 4:4,543,571 | G/A | — | uncertain significance |
| rs781161674 | 4:4,543,588 | C/T | — | uncertain significance |
| rs1731617412 | 4:4,543,596 | A/C | — | uncertain significance |
| rs769150506 | 4:4,543,622 | C/T | — | uncertain significance |
| rs762253349 | 4:4,543,639 | G/T | — | uncertain significance |
| rs1183430588 | 4:4,543,649 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.