| Entrez Gene ID | 3071 |
|---|---|
| Official Gene Symbol | NCKAP1L (GeneCards) |
| Full name | NCK associated protein 1 like |
| Location | 12q13.13-q13.2 |
| Other ids | Vega : OTTHUMG00000169843 MIM : 141180 HGNC : HGNC:4862 Ensembl : ENSG00000123338 |
| Other names | HEM1 |
| Summary | This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 16840 | 3071 | NCKAP1L | 12 | 54931529 | 54931529 | Asymptomatic | HiSeq X Ten |
| 29861 | 3071 | NCKAP1L | 12 | 54929978 | 54929978 | Autism Spectrum Disorders | HiSeq X Ten NextSeq500 |