STXBP5L
syntaxin binding protein 5L
Summary
The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017]
Known Variants83 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1348245613 | 3:120,628,487 | G/A | — | uncertain significance |
| rs2546039543 | 3:120,628,534 | G/C | — | uncertain significance |
| rs376766783 | 3:120,628,543 | G/T | — | uncertain significance |
| rs531920379 | 3:120,628,553 | C/T | — | uncertain significance |
| rs753546265 | 3:120,628,580 | A/C | — | uncertain significance |
| rs774756787 | 3:120,673,820 | G/A | — | uncertain significance |
| rs1435838523 | 3:120,673,848 | T/G | — | uncertain significance |
| rs777299263 | 3:120,673,863 | C/T | — | uncertain significance |
| rs190177747 | 3:120,709,418 | C/T | intron variant | — |
| rs1947171919 | 3:120,760,569 | T/A | — | uncertain significance |
| rs754894291 | 3:120,764,343 | G/C | — | uncertain significance |
| rs372035565 | 3:120,764,354 | C/T | — | uncertain significance |
| rs376559237 | 3:120,764,359 | T/G | — | uncertain significance |
| rs749337350 | 3:120,764,367 | A/G | — | uncertain significance |
| rs200925938 | 3:120,764,376 | G/A | — | uncertain significance |
| rs2545807416 | 3:120,833,836 | A/G | — | uncertain significance |
| rs3845854 | 3:120,838,766 | C/T | intron variant | — |
| rs886043171 | 3:120,871,339 | G/T | — | uncertain significance |
| rs1259325673 | 3:120,871,376 | A/G | — | uncertain significance |
| rs202064473 | 3:120,871,377 | A/C | — | uncertain significance |
| rs745597035 | 3:120,871,402 | G/C | — | uncertain significance |
| rs773187305 | 3:120,876,431 | C/A | — | uncertain significance |
| rs1473020440 | 3:120,876,432 | C/G | — | uncertain significance |
| rs764357568 | 3:120,924,793 | A/G | — | uncertain significance |
| rs530983994 | 3:120,929,531 | G/C | — | — |
| rs2546213147 | 3:120,941,887 | G/A | — | uncertain significance |
| rs1387330219 | 3:120,941,893 | G/T | — | uncertain significance |
| rs1334524732 | 3:120,941,914 | A/G | — | uncertain significance |
| rs2546213658 | 3:120,941,992 | C/A | — | uncertain significance |
| rs377436841 | 3:120,952,466 | T/G | — | uncertain significance |
| rs61996323 | 3:120,952,486 | A/G | — | conflicting classifications of pathogenicity |
| rs1414571329 | 3:120,957,900 | C/T | — | uncertain significance |
| rs768533171 | 3:120,959,335 | C/T | — | uncertain significance |
| rs751583842 | 3:120,973,756 | C/G | — | uncertain significance |
| rs761193088 | 3:120,973,829 | T/C | — | uncertain significance |
| rs139305792 | 3:120,973,863 | C/T | — | likely benign |
| rs370605827 | 3:120,976,021 | G/A | — | uncertain significance |
| rs1304923637 | 3:120,976,035 | G/A | — | likely benign |
| rs778035269 | 3:120,976,059 | C/G | — | uncertain significance |
| rs267599562 | 3:120,977,910 | G/A | — | uncertain significance |
| rs2546333912 | 3:120,977,928 | A/G | — | uncertain significance |
| rs2546333929 | 3:120,977,931 | C/T | — | uncertain significance |
| rs1428645252 | 3:120,977,939 | G/T | — | uncertain significance |
| rs374418272 | 3:120,998,788 | A/G | — | uncertain significance |
| rs77475405 | 3:121,001,127 | C/T | — | uncertain significance |
| rs2546390399 | 3:121,001,154 | T/G | — | uncertain significance |
| rs11707293 | 3:121,084,467 | C/T | intron variant | — |
| rs866206814 | 3:121,097,652 | C/T | — | uncertain significance |
| rs372644712 | 3:121,097,698 | C/G | — | uncertain significance |
| rs780583522 | 3:121,097,701 | G/T | — | uncertain significance |
| rs200186528 | 3:121,100,164 | G/C | — | uncertain significance |
| rs745826307 | 3:121,100,248 | G/A | — | uncertain significance |
| rs17740066 | 3:121,100,283 | A/G | — | benign |
| rs374960778 | 3:121,100,353 | C/T | — | uncertain significance |
| rs778811755 | 3:121,100,361 | G/A | — | uncertain significance |
| rs774837323 | 3:121,126,098 | C/T | — | uncertain significance |
| rs762224083 | 3:121,126,104 | T/A | — | uncertain significance |
| rs372303212 | 3:121,126,115 | T/C | — | likely benign |
| rs566220337 | 3:121,126,141 | G/C | — | uncertain significance |
| rs372159525 | 3:121,126,215 | T/C | — | uncertain significance |
| rs765883670 | 3:121,126,231 | T/C | — | uncertain significance |
| rs1424625708 | 3:121,126,261 | T/C | — | uncertain significance |
| rs376002630 | 3:121,126,276 | A/G | — | uncertain significance |
| rs2546707035 | 3:121,126,336 | T/C | — | uncertain significance |
| rs190278242 | 3:121,126,404 | G/A | — | likely benign |
| rs2546707249 | 3:121,126,407 | T/C | — | uncertain significance |
| rs771227041 | 3:121,126,430 | C/A | — | uncertain significance |
| rs377434066 | 3:121,126,438 | T/C | — | uncertain significance |
| rs2546707365 | 3:121,126,440 | A/C | — | uncertain significance |
| rs976815577 | 3:121,126,446 | A/G | — | uncertain significance |
| rs183828872 | 3:121,132,042 | T/C | — | likely benign |
| rs200892436 | 3:121,132,088 | A/G | — | uncertain significance |
| rs768989967 | 3:121,132,100 | C/T | — | uncertain significance |
| rs767675000 | 3:121,132,111 | G/A | — | uncertain significance |
| rs1398586140 | 3:121,132,156 | T/A | — | uncertain significance |
| rs13094925 | 3:121,134,709 | G/A | — | likely benign |
| rs756746175 | 3:121,134,788 | G/A | — | uncertain significance |
| rs751191295 | 3:121,137,197 | G/A | — | likely benign |
| rs182836802 | 3:121,137,240 | C/T | — | likely benign |
| rs749836784 | 3:121,137,265 | G/A | — | uncertain significance |
| rs778813739 | 3:121,137,298 | G/A | — | uncertain significance |
| rs373203919 | 3:121,137,300 | G/A | — | uncertain significance |
| rs757351395 | 3:121,137,301 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.