ERBB4 E452K
Gene Variant Detail

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Gene ERBB4
Variant E452K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ERBB4 E452K lies within the extracellular domain of the Erbb4 protein (UniProt.org). E452K results in constitutive phosphorylation of Erbb4, increased Akt phosphorylation, and transformation in cell culture (PMID: 19718025).
Associated Drug Resistance
Category Variants Paths

ERBB4 mutant ERBB4 act mut ERBB4 E452K

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Transcript NM_005235.3
gDNA chr2:g.211702102C>T
cDNA c.1354G>A
Protein p.E452K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005246377.3 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38
XM_005246376.3 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38
XM_006712364.4 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38
NM_005235 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38
XM_006712364.3 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38
NM_005235.2 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38
NM_005235.3 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38
NM_001042599 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38
XM_005246376.4 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38
XM_005246377.4 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38
XM_005246376 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38
XM_006712364 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38
XM_005246377 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38

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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