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| Gene | ERBB3 |
| Variant | P262H |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ERBB3 (HER3) P262H lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). P262H confers a gain to Erbb3 (Her3) as demonstrated by increased downstream signaling and transformation of Erbb2 (Her2) expressing cells in culture, and tumor growth in a mouse model co-expressing Erbb2 (Her2) (PMID: 23680147) |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB3 mutant ERBB3 act mut ERBB3 P262H |
| Transcript | NM_001982.4 |
| gDNA | chr12:g.56088073C>A |
| cDNA | c.785C>A |
| Protein | p.P262H |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001982 | chr12:g.56088073C>A | c.785C>A | p.P262H | RefSeq | GRCh38/hg38 |
| NM_001982.3 | chr12:g.56088073C>A | c.785C>A | p.P262H | RefSeq | GRCh38/hg38 |
| NM_001982.4 | chr12:g.56088073C>A | c.785C>A | p.P262H | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ERBB3 P262H | gain of function | HER inhibitor (Pan) HER2 Inhibitor HER3 Inhibitor Pertuzumab Trastuzumab |