Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | ERBB4 |
| Variant | G863E |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | ERBB4 G863E lies within the protein kinase domain of the Erbb4 protein (UniProt.org). G863E a loss of ligand-dependent phosphorylation of Erbb4 and downstream signaling, reduced ability to promote ligand-dependent cell growth, and is not transforming in culture (PMID: 33323455). |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB4 mutant ERBB4 inact mut ERBB4 G863E |
| Transcript | NM_005235.3 |
| gDNA | chr2:g.211431000C>T |
| cDNA | c.2588G>A |
| Protein | p.G863E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001042599.1 | chr2:g.211431000C>T | c.2588G>A | p.G863E | RefSeq | GRCh38/hg38 |
| NM_005235.2 | chr2:g.211431000C>T | c.2588G>A | p.G863E | RefSeq | GRCh38/hg38 |
| NM_005235.3 | chr2:g.211431000C>T | c.2588G>A | p.G863E | RefSeq | GRCh38/hg38 |
| NM_001042599.1 | chr2:g.211431000C>T | c.2588G>A | p.G863E | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|