| Entrez Gene ID | 8570 |
|---|---|
| Official Gene Symbol | KHSRP (GeneCards) |
| Full name | KH-type splicing regulatory protein |
| Location | 19p13.3 |
| Other ids | Vega : OTTHUMG00000180850 MIM : 603445 HGNC : HGNC:6316 Ensembl : ENSG00000088247 |
| Other names | FBP2, KSRP, FUBP2 |
| Summary | The KHSRP gene encodes a multifunctional RNA-binding protein implicated in a variety of cellular processes, including transcription, alternative pre-mRNA splicing, and mRNA localization (Min et al., 1997 [PubMed 9136930]; Gherzi et al., 2004 [PubMed 15175153]).[supplied by OMIM, Apr 2010] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 950 | 8570 | KHSRP | 19 | 6416787 | 6416787 | Human Skin Fibroblasts | HiSeq 2500 |