NELFE
negative elongation factor complex member E
Summary
The protein encoded by this gene is part of a complex termed negative elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract of alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. [provided by RefSeq, Jul 2008]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs757336072 | 6:31,920,098 | T/C | — | uncertain significance |
| rs375697443 | 6:31,920,146 | G/A | — | uncertain significance |
| rs767762051 | 6:31,921,566 | T/C | — | uncertain significance |
| rs2482753607 | 6:31,921,906 | G/A | — | uncertain significance |
| rs1461245631 | 6:31,922,156 | T/C | — | uncertain significance |
| rs2482758498 | 6:31,922,157 | C/T | — | uncertain significance |
| rs371487589 | 6:31,922,171 | A/G | — | uncertain significance |
| rs373302915 | 6:31,922,334 | C/T | — | uncertain significance |
| rs375169736 | 6:31,922,335 | G/A | — | uncertain significance |
| rs780440637 | 6:31,922,373 | C/T | — | uncertain significance |
| rs1426135219 | 6:31,922,407 | C/T | — | uncertain significance |
| rs780466374 | 6:31,922,410 | G/C | — | uncertain significance |
| rs190228597 | 6:31,922,414 | C/T | — | likely benign |
| rs772078692 | 6:31,922,428 | G/A | — | uncertain significance |
| rs781110648 | 6:31,922,445 | C/T | — | uncertain significance |
| rs371273213 | 6:31,922,469 | C/T | — | uncertain significance |
| rs754257772 | 6:31,922,506 | G/A | — | uncertain significance |
| rs755244751 | 6:31,922,511 | C/T | — | uncertain significance |
| rs540393321 | 6:31,922,527 | G/C | — | uncertain significance |
| rs913022605 | 6:31,922,550 | C/T | — | uncertain significance |
| rs760219391 | 6:31,922,556 | C/T | — | likely benign |
| rs147505932 | 6:31,922,557 | G/A | — | uncertain significance |
| rs1427871925 | 6:31,922,579 | G/T | — | uncertain significance |
| rs201967641 | 6:31,922,583 | C/T | — | uncertain significance |
| rs747856345 | 6:31,922,649 | C/T | — | uncertain significance |
| rs1180267518 | 6:31,922,863 | C/A | — | uncertain significance |
| rs149263367 | 6:31,922,864 | G/A | — | uncertain significance |
| rs2482782592 | 6:31,923,027 | C/A | — | uncertain significance |
| rs372313241 | 6:31,923,231 | T/A | — | — |
| rs200708785 | 6:31,923,232 | T/A | — | — |
| rs34140409 | 6:31,923,654 | C/T | upstream gene variant | — |
| rs1400416462 | 6:31,924,720 | C/T | — | uncertain significance |
| rs142824536 | 6:31,924,793 | A/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.