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| Gene | ERBB3 |
| Variant | V104M |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ERBB3 (HER3) V104M lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). V104M results in increased viability (PMID: 38751013), phosphorylation of Akt and Erk, and transformation in Erbb2 (Her2)-expressing cells in culture (PMID: 23680147), however, demonstrates cell proliferation and viability (PMID: 29533785) in the context of endogenous Erbb2 (Her2), and viability and downstream signaling in cells expressing ERBB2 (HER2) V956R (PMID: 38806620) similar to wild-type Erbb3 (Her3) in culture, and therefore, its effect on Erbb3 (Her3) protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB3 mutant ERBB3 V104M |
| Transcript | NM_001982.4 |
| gDNA | chr12:g.56085070G>A |
| cDNA | c.310G>A |
| Protein | p.V104M |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001005915.1 | chr12:g.56085070G>A | c.310G>A | p.V104M | RefSeq | GRCh38/hg38 |
| NM_001982.3 | chr12:g.56085070G>A | c.310G>A | p.V104M | RefSeq | GRCh38/hg38 |
| NM_001982.4 | chr12:g.56085070G>A | c.310G>A | p.V104M | RefSeq | GRCh38/hg38 |
| NM_001005915 | chr12:g.56085070G>A | c.310G>A | p.V104M | RefSeq | GRCh38/hg38 |
| NM_001982 | chr12:g.56085070G>A | c.310G>A | p.V104M | RefSeq | GRCh38/hg38 |
| NM_001005915.1 | chr12:g.56085070G>A | c.310G>A | p.V104M | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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