ERBB4 N181S
Gene Variant Detail

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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

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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_017003579 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_006712364.4 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_005246377.3 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_006712364 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_017003578 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
NM_005235 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_017003577 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_005246376 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_017003581.2 chr2:g.211788039T>C c.542A>G p.N181S RefSeq GRCh38/hg38
XM_017003578.3 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_017003578.2 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_017003580.2 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_005246377.4 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
NM_001042599 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_017003577.2 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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB4 act mut Advanced Solid Tumor no benefit Neratinib + Trametinib Phase I Actionable In a Phase I trial, treatment with the combination of Nerlynx (neratinib) and Mekinist (trametinib) demonstrated toxicity and limited efficacy in patients with advanced solid tumors harboring EGFR or ERBB2 (HER2) activating mutations or amplification, or activating mutations in ERBB3 (HER3), ERBB4, or KRAS, with a clinical benefit rate of 10% (2/20, 2 stable disease), and a median duration of treatment of 1.8 months (PMID: 37314501; NCT03065387). 37314501
ERBB4 mutant lung squamous cell carcinoma predicted - sensitive Afatinib Phase III Actionable In a Phase III trial (LUX-Lung 8), secondary analysis demonstrated favorable outcomes with Gilotrif (afatinib) treatment compared to Tarceva (erlotinib) in lung squamous cell carcinoma patients with ERBB (HER) family mutations, and ERBB4 (HER4) mutations predicted an OS (HR=0.22) and PFS (HR=0.21) benefit for Gilotrif (afatinib) over Tarceva (erlotinib) treatment (PMID: 29902295; NCT01523587). 29902295