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| Gene | ERBB4 |
| Variant | D931Y |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ERBB4 D931Y lies within the protein kinase domain of the Erbb4 protein (UniProt.org). D931Y does not lead to cell transformation in culture (PMID: 34741886) but confers a gain of function to the Erbb4 protein as demonstrated by increased receptor transactivation, heterdimerization with Erbb2 (Her2), and increased Erbb4 phosphorylation (PMID: 26050618). |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB4 mutant ERBB4 act mut ERBB4 D931Y |
| Transcript | NM_005235.3 |
| gDNA | chr2:g.211424230C>A |
| cDNA | c.2791G>T |
| Protein | p.D931Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005235 | chr2:g.211424230C>A | c.2791G>T | p.D931Y | RefSeq | GRCh38/hg38 |
| NM_005235.2 | chr2:g.211424230C>A | c.2791G>T | p.D931Y | RefSeq | GRCh38/hg38 |
| NM_005235.3 | chr2:g.211424230C>A | c.2791G>T | p.D931Y | RefSeq | GRCh38/hg38 |
| NM_001042599.1 | chr2:g.211424230C>A | c.2791G>T | p.D931Y | RefSeq | GRCh38/hg38 |
| NM_001042599.1 | chr2:g.211424230C>A | c.2791G>T | p.D931Y | RefSeq | GRCh38/hg38 |
| NM_001042599 | chr2:g.211424230C>A | c.2791G>T | p.D931Y | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ERBB4 D931Y | gain of function | Lapatinib |