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| Gene | ERBB3 |
| Variant | E928fs |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | ERBB3 (HER3) E928fs results in a change in the amino acid sequence of the Erbb3 (Her3) protein beginning at aa 928 of 1342, likely resulting in premature truncation of the functional protein (UniProt.org). E928fs (reported as E928fs*16) results in basal level Erbb3 (Her3) phosphorylation comparable to wild-type protein, but fails to transactivate coexpressed Erbb2 (Her2) in the presence of ligand, and is not transforming in culture (PMID: 33323455), and therefore, is predicted to lead to a loss of Erbb3 (Her3) protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB3 mutant ERBB3 inact mut ERBB3 E928fs |
| Transcript | NM_001982.4 |
| gDNA | chr12:g.(56098847_56098848) |
| cDNA | c.(2782_2781) |
| Protein | p.E928fs |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001982.4 | chr12:g.(56098847_56098848) | c.(2782_2781) | p.E928fs | RefSeq | GRCh38/hg38 |
| NM_001982.3 | chr12:g.(56098847_56098848) | c.(2782_2781) | p.E928fs | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ERBB3 E928fs | loss of function - predicted |