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 | N353T |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | ERBB3 (HER3) N353T lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). N353T results in increased IL3-independent growth upon co-expression with ERBB2 (HER2) V956R, an impaired activator of homodimerization, in culture (PMID: 38806620), and therefore, is predicted to lead to a gain of Erbb3 (Her3) protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB3 mutant ERBB3 act mut ERBB3 N353T |
| Transcript | NM_001982.4 |
| gDNA | chr12:g.56088817A>C |
| cDNA | c.1058A>C |
| Protein | p.N353T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001982.4 | chr12:g.56088817A>C | c.1058A>C | p.N353T | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ERBB3 N353T | gain of function - predicted | HER inhibitor (Pan) HER2 Inhibitor HER3 Inhibitor |