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| Gene | ERBB4 |
| Variant | R687K |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ERBB4 R687K lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). R687K results in anchorage-independent growth and increased Erbb4 phosphorylation in cultured cells (PMID: 36860695). |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB4 mutant ERBB4 act mut ERBB4 R687K |
| Transcript | NM_005235.3 |
| gDNA | chr2:g.211630481C>T |
| cDNA | c.2060G>A |
| Protein | p.R687K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001042599.1 | chr2:g.211630481C>T | c.2060G>A | p.R687K | RefSeq | GRCh38/hg38 |
| NM_001042599.1 | chr2:g.211630481C>T | c.2060G>A | p.R687K | RefSeq | GRCh38/hg38 |
| NM_005235.2 | chr2:g.211630481C>T | c.2060G>A | p.R687K | RefSeq | GRCh38/hg38 |
| NM_005235.3 | chr2:g.211630481C>T | c.2060G>A | p.R687K | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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