SMCR8
SMCR8-C9orf72 complex subunit
Summary
Enables GTPase activator activity; protein kinase binding activity; and protein kinase inhibitor activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in negative regulation of gene expression; regulation of TOR signaling; and regulation of macroautophagy. Located in Atg1/ULK1 kinase complex; chromatin; and nucleoplasm. Part of guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants65 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs769928529 | 17:18,219,169 | T/A | — | uncertain significance |
| rs2545639844 | 17:18,219,195 | C/T | — | uncertain significance |
| rs1469187851 | 17:18,219,200 | C/G | — | uncertain significance |
| rs1195500635 | 17:18,219,240 | C/T | — | uncertain significance |
| rs2545639997 | 17:18,219,281 | A/C | — | uncertain significance |
| rs2545640031 | 17:18,219,317 | T/G | — | uncertain significance |
| rs555622594 | 17:18,219,333 | A/G | — | uncertain significance |
| rs375580851 | 17:18,219,416 | G/T | — | uncertain significance |
| rs2545640183 | 17:18,219,424 | T/C | — | likely benign |
| rs754151897 | 17:18,219,455 | G/T | — | uncertain significance |
| rs747883399 | 17:18,219,510 | T/C | — | uncertain significance |
| rs370024325 | 17:18,219,538 | G/T | — | uncertain significance |
| rs762137778 | 17:18,219,567 | T/C | — | uncertain significance |
| rs117521287 | 17:18,219,607 | G/A | — | likely benign |
| rs757009847 | 17:18,219,821 | G/C | — | uncertain significance |
| rs1399707205 | 17:18,219,839 | C/A | — | uncertain significance |
| rs202232459 | 17:18,219,872 | C/T | — | uncertain significance |
| rs200687289 | 17:18,219,879 | G/A | — | uncertain significance |
| rs760770392 | 17:18,220,001 | C/G | — | uncertain significance |
| rs780270512 | 17:18,220,131 | A/G | — | uncertain significance |
| rs540727387 | 17:18,220,176 | A/T | — | uncertain significance |
| rs773204211 | 17:18,220,202 | A/G | — | uncertain significance |
| rs2545641434 | 17:18,220,262 | G/A | — | uncertain significance |
| rs79875842 | 17:18,220,268 | A/G | — | benign |
| rs749292840 | 17:18,220,271 | C/T | — | uncertain significance |
| rs1228526247 | 17:18,220,299 | C/T | — | uncertain significance |
| rs145506981 | 17:18,220,450 | C/G | — | uncertain significance |
| rs374558171 | 17:18,220,575 | C/T | — | uncertain significance |
| rs751507364 | 17:18,220,586 | G/A | — | uncertain significance |
| rs753460792 | 17:18,220,614 | G/A | — | uncertain significance |
| rs748547369 | 17:18,220,643 | G/A | — | uncertain significance |
| rs573298891 | 17:18,220,652 | A/T | — | uncertain significance |
| rs544765086 | 17:18,220,697 | G/T | — | uncertain significance |
| rs1567758650 | 17:18,220,701 | T/C | — | uncertain significance |
| rs1982351131 | 17:18,220,715 | C/T | — | uncertain significance |
| rs147308062 | 17:18,220,774 | C/A | — | uncertain significance |
| rs766024548 | 17:18,220,791 | C/T | — | uncertain significance |
| rs551511323 | 17:18,220,814 | G/A | — | uncertain significance |
| rs370958431 | 17:18,220,905 | C/A | — | uncertain significance |
| rs2545642273 | 17:18,220,930 | T/G | — | uncertain significance |
| rs751840133 | 17:18,220,956 | G/A | — | uncertain significance |
| rs369818386 | 17:18,221,022 | G/A | — | likely benign |
| rs776101074 | 17:18,221,112 | A/G | — | uncertain significance |
| rs370340912 | 17:18,221,127 | C/T | — | uncertain significance |
| rs780785632 | 17:18,221,190 | G/C | — | uncertain significance |
| rs137890085 | 17:18,221,201 | G/A | — | uncertain significance |
| rs538677685 | 17:18,221,317 | A/C | — | uncertain significance |
| rs2545642742 | 17:18,221,354 | G/C | — | uncertain significance |
| rs139651702 | 17:18,221,399 | C/T | — | uncertain significance |
| rs1378659686 | 17:18,221,403 | G/T | — | uncertain significance |
| rs749402100 | 17:18,221,418 | T/C | — | uncertain significance |
| rs770909725 | 17:18,221,423 | A/G | — | uncertain significance |
| rs7221807 | 17:18,221,799 | T/G | — | — |
| rs753082190 | 17:18,225,935 | G/C | — | uncertain significance |
| rs936423481 | 17:18,225,965 | G/A | — | uncertain significance |
| rs368462355 | 17:18,225,974 | C/T | — | uncertain significance |
| rs762560195 | 17:18,225,975 | G/A | — | uncertain significance |
| rs201638935 | 17:18,225,983 | C/T | — | uncertain significance |
| rs201664795 | 17:18,226,056 | G/A | — | uncertain significance |
| rs373183123 | 17:18,226,070 | C/T | — | uncertain significance |
| rs200340935 | 17:18,226,071 | G/A | — | uncertain significance |
| rs766526116 | 17:18,226,152 | A/C | — | uncertain significance |
| rs202080137 | 17:18,226,187 | G/A | — | uncertain significance |
| rs12949119 | 17:18,229,452 | T/A | downstream gene variant | — |
| rs941454 | 17:18,230,380 | T/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.