| Entrez Gene ID | 64097 |
|---|---|
| Official Gene Symbol | EPB41L4A (GeneCards) |
| Full name | erythrocyte membrane protein band 4.1 like 4A |
| Location | 5q22.1-q22.2 |
| Other ids | Vega : OTTHUMG00000162902 MIM : 612141 HGNC : HGNC:13278 Ensembl : ENSG00000129595 |
| Other names | NBL4, EPB41L4 |
| Summary | The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [provided by RefSeq, Dec 2016] |
Found 7 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1264 | 64097 | EPB41L4A | 5 | 111506680 | 111506680 | Autism Spectrum Disorders | NextSeq500 v2 |
| 7571 | 64097 | EPB41L4A | 5 | 111550629 | 111550629 | Asymptomatic | NextSeq500 v2 HiSeq 2000 |
| 8204 | 64097 | EPB41L4A | 5 | 111543939 | 111543939 | Asymptomatic | NextSeq500 v2 HiSeq 2000 HiSeq X Ten |
| 8532 | 64097 | EPB41L4A | 5 | 111696291 | 111696291 | Asymptomatic | NextSeq500 v2 HiSeq 2000 HiSeq X Ten |
| 8565 | 64097 | EPB41L4A | 5 | 111620509 | 111620509 | Asymptomatic | NextSeq500 v2 HiSeq 2000 HiSeq X Ten |
| 8566 | 64097 | EPB41L4A | 5 | 111720586 | 111720586 | Asymptomatic | NextSeq500 v2 HiSeq 2000 HiSeq X Ten |
| 29774 | 64097 | EPB41L4A | 5 | 111506680 | 111506680 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq 2000 HiSeq X Ten NextSeq500 |