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 | ERBB3 |
| Variant | D297Y |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ERBB3 (HER3) D297Y lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). The functional effect of D297Y is conflicting as it demonstrates increased cell proliferation, but not elevated downstream signaling in ER-positive breast cancer cells; however, leads to increased cell proliferation and downstream signaling in Erbb2 (Her2)-overexpressing cells relative to wild-type (PMID: 29963236), and in another study results in similar cell proliferation and viability levels as wild-type Erbb3 (Her3) (PMID: 29533785), and therefore, its effect on Erbb3 (Her3) protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB3 mutant ERBB3 D297Y |
| Transcript | NM_001982.4 |
| gDNA | chr12:g.56088557G>T |
| cDNA | c.889G>T |
| Protein | p.D297Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001982.3 | chr12:g.56088557G>T | c.889G>T | p.D297Y | RefSeq | GRCh38/hg38 |
| NM_001982.4 | chr12:g.56088557G>T | c.889G>T | p.D297Y | RefSeq | GRCh38/hg38 |
| NM_001982 | chr12:g.56088557G>T | c.889G>T | p.D297Y | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|