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| Gene | ERBB4 |
| Variant | A17V |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | ERBB4 A17V lies within the signal peptide region of the Erbb4 protein (UniProt.org). A17V results in basal level and ligand-dependent phosphorylation of Erbb4 and downstream signaling comparable to wild-type protein, and is not transforming in culture (PMID: 33323455), and therefore, is predicted to have no effect on Erbb4 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB4 mutant ERBB4 A17V |
| Transcript | NM_005235.3 |
| gDNA | chr2:g.212538481G>A |
| cDNA | c.50C>T |
| Protein | p.A17V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001042599.1 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| XM_017003577.2 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| NM_005235.3 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| XM_006712364.4 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| XM_017003577.3 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| XM_005246377.4 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| XM_005246376.3 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| XM_017003581.2 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| XM_006712364.3 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| XM_017003578.3 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| XM_005246377.3 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| XM_017003578.2 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| XM_005246376.4 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| XM_017003579.3 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| NM_005235.2 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| XM_017003580.2 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| XM_017003581.3 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| XM_017003579.2 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| XM_017003580.3 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| NM_001042599.1 | chr2:g.212538481G>A | c.50C>T | p.A17V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| ERBB4 A17V | hematologic cancer | sensitive | Lapatinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing ERBB4 A17V demonstrated sensitivity to Tykerb (lapatinib) similar to wild-type Erbb4 in culture, resulting in decreased cell viability (PMID: 33323455). | 33323455 |
| ERBB4 A17V | hematologic cancer | sensitive | Neratinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing ERBB4 A17V demonstrated sensitivity to Nerlynx (neratinib) similar to wild-type Erbb4 in culture, resulting in decreased cell viability (PMID: 33323455). | 33323455 |
| ERBB4 A17V | hematologic cancer | sensitive | Afatinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing ERBB4 A17V demonstrated sensitivity to Gilotrif (afatinib) similar to wild-type Erbb4 in culture, resulting in decreased cell viability (PMID: 33323455). | 33323455 |
| ERBB4 A17V | hematologic cancer | sensitive | Erlotinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing ERBB4 A17V demonstrated sensitivity to Tarceva (erlotinib) similar to wild-type Erbb4 in culture, resulting in decreased cell viability (PMID: 33323455). | 33323455 |