| Variant ID | 24745 |
|---|---|
| Entrez Gene ID | 2066 |
| Gene | ERBB4 (GeneCards) |
| Location | hg19 2:212887173-212887173
hg38 2:212022448-212022448 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000002.11:g.212887173 C>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3396 |
| CADD Raw score (version 1.3) | 0.071858 (Deleterious) |
| FATHMM raw prediction score | 0.07611 (Tolerated) |
| Deleterious probability by DeFine | 0.1748 (Neutral) |
| Entrez Gene ID | 2066 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ERBB4 (GeneCards) |
| Number of variants in ERBB4 in this database | 115 (view all the variants) |
| Full name | erb-b2 receptor tyrosine kinase 4 |
| Band | 2q34 |
| Other IDs | Vega: OTTHUMG00000133012 OMIM: 600543 HGNC: HGNC:3432 Ensembl: ENSG00000178568 |
| Other names | HER4, ALS19, p180erbB4 |
| Summary | This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |