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| Gene | ERBB3 |
| Variant | E928G |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ERBB3 (HER3) E928G lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). E928G confers a gain of Erbb3 (Her3) protein function, resulting in phosphorylation of Akt and Erk, as well as oncogenic transformation of Erbb2 (Her2) expressing cells (PMID: 23680147) and increased IL3-independent growth upon co-expression with ERBB2 (HER2) V956R, an impaired activator of homodimerization, in culture (PMID: 38806620). |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB3 mutant ERBB3 act mut ERBB3 E928G |
| Transcript | NM_001982.4 |
| gDNA | chr12:g.56098849A>G |
| cDNA | c.2783A>G |
| Protein | p.E928G |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001982 | chr12:g.56098849A>G | c.2783A>G | p.E928G | RefSeq | GRCh38/hg38 |
| NM_001982.4 | chr12:g.56098849A>G | c.2783A>G | p.E928G | RefSeq | GRCh38/hg38 |
| NM_001982.3 | chr12:g.56098849A>G | c.2783A>G | p.E928G | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ERBB3 E928G | gain of function | HER inhibitor (Pan) HER2 Inhibitor HER3 Inhibitor Pertuzumab Trastuzumab |