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| Gene | ERBB4 |
| Variant | G802D |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ERBB4 G802D lies within the protein kinase domain of the Erbb4 protein (UniProt.org). G802D confers a gain of Erbb4 protein function as demonstrated by anchorage-independent growth in the presence of ligand and increased Erbb4 phosphorylation in culture (PMID: 36860695). |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB4 mutant ERBB4 act mut ERBB4 G802D |
| Transcript | NM_005235.3 |
| gDNA | chr2:g.211561985C>T |
| cDNA | c.2405G>A |
| Protein | p.G802D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005235.2 | chr2:g.211561985C>T | c.2405G>A | p.G802D | RefSeq | GRCh38/hg38 |
| NM_005235.3 | chr2:g.211561985C>T | c.2405G>A | p.G802D | RefSeq | GRCh38/hg38 |
| NM_001042599.1 | chr2:g.211561985C>T | c.2405G>A | p.G802D | RefSeq | GRCh38/hg38 |
| NM_001042599.1 | chr2:g.211561985C>T | c.2405G>A | p.G802D | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ERBB4 G802D | gain of function |