Gene Variant Detail

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Gene ERBB2
Variant L869Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ERBB2 (HER2) L869Q lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L869Q has been identified in the scientific literature (PMID: 26487584, PMID: 27602491, PMID: 28274957), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2019).
Associated Drug Resistance

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Transcript NM_004448
gDNA chr17:g.39725161T>A
cDNA c.2606T>A
Protein p.L869Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004448 chr17:g.39725161T>A c.2606T>A p.L869Q RefSeq GRCh38/hg38
NM_001289937 chr17:g.39725161T>A c.2606T>A p.L869Q RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Protein Effect Treatment Approaches
ERBB2 L869Q unknown
CDH1 R63* ERBB2 L869Q
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CDH1 R63* ERBB2 L869Q breast cancer predicted - sensitive Capecitabine + Lapatinib Case Reports/Case Series Actionable In a clinical case study, treatment with the combination of Tykerb (lapatinib) and Xeloda (capecitabine) resulted in prolonged response and reduction in liver metastasis in a metastatic breast cancer patient harboring ERBB2 L869Q and CDH1 R63* mutations (PMID: 26487584). 26487584