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| Gene | ERBB4 |
| Variant | K751M |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | ERBB4 K751M lies within the protein kinase domain of the Erbb4 protein (UniProt.org). K751M results in a loss of Erbb4 protein function as demonstrated by a loss of kinase activity in cell culture (PMID: 19718025, PMID: 21110957). |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB4 mutant ERBB4 inact mut ERBB4 K751M |
| Transcript | NM_005235.3 |
| gDNA | chr2:g.211619226T>A |
| cDNA | c.2252A>T |
| Protein | p.K751M |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001042599 | chr2:g.211619226T>A | c.2252A>T | p.K751M | RefSeq | GRCh38/hg38 |
| NM_005235.3 | chr2:g.211619226T>A | c.2252A>T | p.K751M | RefSeq | GRCh38/hg38 |
| NM_005235 | chr2:g.211619226T>A | c.2252A>T | p.K751M | RefSeq | GRCh38/hg38 |
| NM_001042599.1 | chr2:g.211619226T>A | c.2252A>T | p.K751M | RefSeq | GRCh38/hg38 |
| NM_005235.2 | chr2:g.211619226T>A | c.2252A>T | p.K751M | RefSeq | GRCh38/hg38 |
| NM_001042599.1 | chr2:g.211619226T>A | c.2252A>T | p.K751M | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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