SIL1
SIL1 nucleotide exchange factor
Summary
This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
Known Variants316 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs147897662 | 5:138,282,457 | A/G | — | uncertain significance |
| rs377311238 | 5:138,282,541 | G/C | — | uncertain significance |
| rs981026347 | 5:138,282,701 | G/A | — | uncertain significance |
| rs927789907 | 5:138,282,726 | C/G | — | uncertain significance |
| rs371494585 | 5:138,282,776 | G/A | — | uncertain significance |
| rs878963813 | 5:138,282,812 | C/G | — | likely benign |
| rs119456967 | 5:138,282,822 | A/G | missense variant | pathogenic |
| rs777827443 | 5:138,282,824 | C/T | — | likely benign |
| rs2534008005 | 5:138,282,828 | C/T | — | uncertain significance |
| rs751454866 | 5:138,282,834 | A/G | — | uncertain significance |
| rs34214251 | 5:138,282,841 | C/T | — | likely benign |
| rs1458642130 | 5:138,282,845 | C/T | — | likely benign |
| rs1387626154 | 5:138,282,850 | C/T | — | uncertain significance |
| rs745549568 | 5:138,282,861 | C/A | — | uncertain significance |
| rs2534008178 | 5:138,282,862 | C/A | — | uncertain significance |
| rs375567857 | 5:138,282,866 | G/A | — | likely benign |
| rs779649580 | 5:138,282,871 | C/A | — | pathogenic |
| rs1208320948 | 5:138,282,872 | A/G | — | likely benign |
| rs2534008308 | 5:138,282,875 | A/G | — | likely benign |
| rs1766651059 | 5:138,282,876 | T/C | — | uncertain significance |
| rs119456966 | 5:138,282,880 | G/A | stop gained | pathogenic |
| rs994932069 | 5:138,282,906 | T/A | — | uncertain significance |
| rs761095369 | 5:138,282,910 | C/G | — | uncertain significance |
| rs771297655 | 5:138,282,913 | C/A | — | uncertain significance |
| rs199646978 | 5:138,282,919 | G/A | — | likely benign |
| rs765344881 | 5:138,282,923 | G/A | — | likely benign |
| rs1157233880 | 5:138,282,929 | T/C | — | likely benign |
| rs2534008565 | 5:138,282,931 | T/C | — | uncertain significance |
| rs398124389 | 5:138,282,937 | C/T | — | uncertain significance |
| rs368867955 | 5:138,282,943 | G/A | — | likely pathogenic |
| rs2534008630 | 5:138,282,945 | G/T | — | uncertain significance |
| rs138448654 | 5:138,282,954 | C/T | — | uncertain significance |
| rs375241132 | 5:138,282,955 | G/A | — | uncertain significance |
| rs192255604 | 5:138,282,960 | C/T | — | likely benign |
| rs142943842 | 5:138,282,961 | G/A | — | uncertain significance |
| rs1766654534 | 5:138,282,968 | G/A | — | likely benign |
| rs1205787396 | 5:138,282,969 | C/T | — | uncertain significance |
| rs1320201776 | 5:138,282,974 | G/T | — | likely benign |
| rs794727004 | 5:138,282,977 | C/A | — | uncertain significance |
| rs146164392 | 5:138,282,986 | G/A | — | likely benign |
| rs1064797034 | 5:138,282,999 | A/G | — | uncertain significance |
| rs1085307740 | 5:138,283,003 | C/T | — | uncertain significance |
| rs758831626 | 5:138,283,012 | G/A | — | uncertain significance |
| rs1431633313 | 5:138,283,015 | C/A | — | uncertain significance |
| rs199921583 | 5:138,283,024 | C/T | — | uncertain significance |
| rs199890503 | 5:138,283,025 | G/A | — | conflicting classifications of pathogenicity |
| rs755849572 | 5:138,283,028 | C/T | — | likely benign |
| rs140171020 | 5:138,283,031 | C/T | — | likely benign |
| rs753439841 | 5:138,283,032 | G/A | — | uncertain significance |
| rs754574746 | 5:138,283,036 | G/A | — | likely benign |
| rs778425533 | 5:138,283,046 | C/T | — | likely benign |
| rs369750441 | 5:138,283,047 | G/A | — | uncertain significance |
| rs769367813 | 5:138,283,054 | C/T | — | uncertain significance |
| rs1183235569 | 5:138,283,056 | C/G | — | uncertain significance |
| rs149424114 | 5:138,283,067 | T/C | — | likely benign |
| rs2534009198 | 5:138,283,070 | C/G | — | uncertain significance |
| rs1021273983 | 5:138,283,072 | A/G | — | conflicting classifications of pathogenicity |
| rs727504153 | 5:138,283,077 | C/T | — | uncertain significance |
| rs1001202560 | 5:138,283,079 | T/C | — | likely benign |
| rs775864418 | 5:138,283,092 | A/G | — | uncertain significance |
| rs372908895 | 5:138,283,093 | C/T | — | conflicting classifications of pathogenicity |
| rs1268341539 | 5:138,283,097 | G/A | — | likely benign |
| rs543083009 | 5:138,283,098 | C/T | — | uncertain significance |
| rs201560093 | 5:138,283,099 | G/A | — | uncertain significance |
| rs563414935 | 5:138,283,104 | T/G | — | uncertain significance |
| rs767548703 | 5:138,283,107 | T/A | — | uncertain significance |
| rs368428884 | 5:138,283,115 | C/A | — | uncertain significance |
| rs1766660391 | 5:138,283,121 | G/A | — | likely benign |
| rs1201493559 | 5:138,283,126 | T/C | — | uncertain significance |
| rs73265454 | 5:138,283,153 | C/T | — | conflicting classifications of pathogenicity |
| rs371273360 | 5:138,283,154 | G/A | — | likely benign |
| rs377150029 | 5:138,283,156 | C/T | — | uncertain significance |
| rs777267662 | 5:138,283,161 | A/G | — | uncertain significance |
| rs750904029 | 5:138,283,168 | A/C | — | likely benign |
| rs370290043 | 5:138,283,171 | C/T | intron variant | pathogenic |
| rs780316556 | 5:138,283,172 | G/A | — | likely benign |
| rs184154914 | 5:138,283,176 | C/T | — | likely benign |
| rs769052639 | 5:138,283,180 | C/G | — | uncertain significance |
| rs779265176 | 5:138,283,181 | G/A | — | likely benign |
| rs151025547 | 5:138,283,358 | G/T | — | likely benign |
| rs73790388 | 5:138,283,394 | T/C | — | benign |
| rs755390396 | 5:138,286,845 | G/A | — | likely benign |
| rs779355123 | 5:138,286,846 | G/A | — | likely benign |
| rs371041584 | 5:138,286,853 | C/T | — | conflicting classifications of pathogenicity |
| rs57028146 | 5:138,286,854 | A/G | — | benign |
| rs777752978 | 5:138,286,859 | C/T | splice region variant | pathogenic |
| rs747089010 | 5:138,286,860 | C/T | — | uncertain significance |
| rs147974182 | 5:138,286,866 | C/T | — | likely benign |
| rs372399027 | 5:138,286,867 | G/A | — | uncertain significance |
| rs769587333 | 5:138,286,872 | C/G | — | conflicting classifications of pathogenicity |
| rs111292964 | 5:138,286,877 | C/T | — | uncertain significance |
| rs1473605577 | 5:138,286,878 | G/A | — | likely benign |
| rs762543125 | 5:138,286,879 | T/C | — | uncertain significance |
| rs374076564 | 5:138,286,881 | G/C | — | likely benign |
| rs794727978 | 5:138,286,882 | A/C | — | uncertain significance |
| rs751082361 | 5:138,286,884 | C/T | — | conflicting classifications of pathogenicity |
| rs2150377393 | 5:138,286,885 | A/G | — | uncertain significance |
| rs202053975 | 5:138,286,895 | C/T | — | uncertain significance |
| rs201009798 | 5:138,286,896 | G/A | — | likely benign |
| rs765721225 | 5:138,286,898 | G/A | — | uncertain significance |
Showing 100 of 316 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.