NSFL1C
NSFL1 cofactor
Summary
N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, May 2011]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2089998902 | 20:1,424,422 | T/C | — | uncertain significance |
| rs373357248 | 20:1,424,539 | A/T | — | uncertain significance |
| rs916060907 | 20:1,426,341 | C/T | — | uncertain significance |
| rs9575 | 20:1,426,393 | C/T | missense variant | — |
| rs770907558 | 20:1,433,241 | C/T | — | uncertain significance |
| rs745767385 | 20:1,433,244 | G/C | — | uncertain significance |
| rs145945037 | 20:1,433,259 | G/A | — | likely benign |
| rs202113163 | 20:1,433,682 | C/T | — | uncertain significance |
| rs777102479 | 20:1,433,707 | T/C | — | uncertain significance |
| rs558917051 | 20:1,435,616 | G/T | — | uncertain significance |
| rs2515027794 | 20:1,435,617 | G/T | — | uncertain significance |
| rs756871266 | 20:1,435,623 | T/G | — | uncertain significance |
| rs770321045 | 20:1,435,635 | G/T | — | uncertain significance |
| rs572522929 | 20:1,435,649 | C/T | — | uncertain significance |
| rs1417201146 | 20:1,435,707 | C/T | — | uncertain significance |
| rs762930021 | 20:1,435,708 | G/C | — | uncertain significance |
| rs112739971 | 20:1,437,430 | T/C | intron variant | — |
| rs147856921 | 20:1,444,997 | T/C | — | benign |
| rs137956765 | 20:1,445,026 | C/G | — | uncertain significance |
| rs1183103202 | 20:1,447,385 | A/G | — | uncertain significance |
| rs780964316 | 20:1,447,400 | G/A | — | uncertain significance |
| rs113339231 | 20:1,448,848 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.