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Gene | ERBB4 |
Variant | R525S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ERBB4 R525S lies within the extracellular domain of the Erbb4 protein (UniProt.org). R525S has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ERBB4 mutant ERBB4 R525S |
Transcript | NM_005235.3 |
gDNA | chr2:g.211679101G>T |
cDNA | c.1573C>A |
Protein | p.R525S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001042599.1 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
NM_001042599.1 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
XM_005246376.3 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
NM_005235.3 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
XM_005246377.4 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
NM_001042599 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
XM_006712364.4 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
XM_005246376.4 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
NM_005235 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
XM_005246376 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
XM_006712364.3 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
XM_006712364 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
NM_005235.2 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
XM_005246377.3 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
XM_005246377 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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 |