NSF
N-ethylmaleimide sensitive factor, vesicle fusing ATPase
Summary
Enables PDZ domain binding activity and ionotropic glutamate receptor binding activity. Involved in intracellular protein transport; positive regulation of protein catabolic process; and positive regulation of receptor recycling. Located in Golgi apparatus; cytosol; and plasma membrane. Implicated in developmental and epileptic encephalopathy 96. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs116956554 | 17:44,699,851 | G/A | intron variant | — |
| rs4280294 | 17:44,705,373 | G/C | — | — |
| rs62072063 | 17:44,712,893 | A/G | — | — |
| rs199491 | 17:44,732,815 | C/T | — | — |
| rs201619114 | 17:44,735,336 | A/T | — | — |
| rs199805751 | 17:44,735,337 | T/A | — | — |
| rs199470 | 17:44,753,025 | C/T | — | — |
| rs199469 | 17:44,753,140 | A/G | — | — |
| rs374952396 | 17:44,753,643 | G/T | — | — |
| rs141783865 | 17:44,755,729 | A/C | — | — |
| rs199461 | 17:44,762,589 | G/A | intron variant | — |
| rs199460 | 17:44,764,775 | A/T | — | — |
| rs2545892882 | 17:44,770,274 | T/A | — | likely benign |
| rs747396788 | 17:44,770,354 | C/T | — | uncertain significance |
| rs2545892980 | 17:44,770,362 | C/T | — | uncertain significance |
| rs2545893022 | 17:44,770,401 | G/T | — | uncertain significance |
| rs1863305255 | 17:44,771,900 | G/A | — | uncertain significance |
| rs369349043 | 17:44,771,929 | C/T | — | likely benign |
| rs1568034157 | 17:44,771,943 | C/T | — | not provided |
| rs373218599 | 17:44,771,945 | G/A | — | likely benign |
| rs1248605409 | 17:44,771,950 | G/A | — | likely benign |
| rs2146234924 | 17:44,772,013 | G/A | — | uncertain significance |
| rs199441 | 17:44,773,783 | A/T | — | — |
| rs199440 | 17:44,781,030 | G/T | — | — |
| rs200403 | 17:44,781,143 | C/A | — | — |
| rs2146247619 | 17:44,782,125 | G/A | — | pathogenic |
| rs1378358 | 17:44,787,312 | C/T | intron variant | — |
| rs538628 | 17:44,787,313 | G/A | — | — |
| rs183211 | 17:44,788,310 | G/T | — | — |
| rs376914472 | 17:44,788,374 | G/A | — | conflicting classifications of pathogenicity |
| rs2146266663 | 17:44,791,279 | C/T | — | pathogenic |
| rs11537609 | 17:44,791,322 | T/C | — | likely benign |
| rs749703543 | 17:44,803,978 | C/T | — | uncertain significance |
| rs199447 | 17:44,812,188 | C/T | intron variant | — |
| rs2545957408 | 17:44,827,167 | C/G | — | uncertain significance |
| rs2545957595 | 17:44,827,239 | T/C | — | uncertain significance |
| rs540304545 | 17:44,828,896 | C/T | — | uncertain significance |
| rs373537714 | 17:44,828,899 | A/G | — | uncertain significance |
| rs199533 | 17:44,828,931 | G/A | synonymous variant | — |
| rs2545960080 | 17:44,828,950 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.