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| Gene | ERBB4 |
| Variant | N181S |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | ERBB4 N181S lies within the extracellular domain of the Erbb4 protein (UniProt.org). N181S results in enhanced Erbb2 ligand-dependent activation in the context of Erbb4-Erbb2 dimerized receptors (PMID: 26050618), 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 N181S |
| Transcript | NM_005235.3 |
| gDNA | chr2:g.211788039T>C |
| cDNA | c.542A>G |
| Protein | p.N181S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_017003578.3 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_017003578.2 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_005246377 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_017003578 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| NM_001042599 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| NM_005235.3 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| NM_001042599.1 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_017003577.2 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| NM_005235.2 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_017003580.2 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_017003581.3 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_005246377.3 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_017003581.2 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_017003577 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_017003581 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_005246376.4 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_005246376.3 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_017003580 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_005246377.4 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_017003579.3 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_006712364 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| NM_005235 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| NM_001042599.1 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_017003580.3 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_017003577.3 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_017003579 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_005246376 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_006712364.3 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_017003579.2 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| XM_006712364.4 | chr2:g.211788039T>C | c.542A>G | p.N181S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ERBB4 N181S | gain of function - predicted | Lapatinib |