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| Gene | ERBB4 |
| Variant | G741R |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | ERBB4 G741R lies within the protein kinase domain of the Erbb4 protein (UniProt.org). G741R did not show anchorage-independent growth in one cell line in culture but results in increased Erbb4 phosphorylation and IL-3 independent growth in the presence of ligand in culture (PMID: 36860695), and therefore, is predicted to lead to a gain of Erbb4 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB4 mutant ERBB4 act mut ERBB4 G741R |
| Transcript | NM_005235.3 |
| gDNA | chr2:g.211619257C>T |
| cDNA | c.2221G>A |
| Protein | p.G741R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001042599.1 | chr2:g.211619257C>T | c.2221G>A | p.G741R | RefSeq | GRCh38/hg38 |
| NM_005235.2 | chr2:g.211619257C>T | c.2221G>A | p.G741R | RefSeq | GRCh38/hg38 |
| XM_017003580.3 | chr2:g.211623951C>G | c.2221G>C | p.G741R | RefSeq | GRCh38/hg38 |
| NM_001042599.1 | chr2:g.211619257C>T | c.2221G>A | p.G741R | RefSeq | GRCh38/hg38 |
| NM_005235.3 | chr2:g.211619257C>T | c.2221G>A | p.G741R | RefSeq | GRCh38/hg38 |
| XM_017003580.2 | chr2:g.211623951C>G | c.2221G>C | p.G741R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ERBB4 G741R | gain of function - predicted |