Gene Variant Detail

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Gene ERBB2
Variant E812K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ERBB2 (HER2) E812K lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E812K confers Tykerb (lapatinib) resistance in cell culture (PMID: 18413839), but has not been biochemically characterized, and therefore its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2019).
Associated Drug Resistance Y

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Transcript NM_004448
gDNA chr17:g.39724852G>A
cDNA c.2434G>A
Protein p.E812K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004448 chr17:g.39724852G>A c.2434G>A p.E812K RefSeq GRCh38/hg38
NM_001289937 chr17:g.39724852G>A c.2434G>A p.E812K 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"

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 Protein Effect Treatment Approaches
ERBB2 E812K unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB2 E812K Advanced Solid Tumor decreased response Lapatinib Preclinical Actionable In a preclinical study, transformed cells over expressing ERBB2 (HER2) E812K demonstrated reduced sensitivity to Tykerb (lapatinib) in culture (PMID: 18413839). 18413839
ERBB2 E812K Advanced Solid Tumor sensitive XL647 Preclinical Actionable In a preclinical study, XL647 inhibited survival of transformed cells over expressing ERBB2 (HER2) E812K in culture (PMID: 18413839). 18413839
ERBB2 E812K lung adenocarcinoma predicted - sensitive Poziotinib Phase II Actionable In a Phase II trial, Poziotinib (HM781-36B) treatment resulted in stable disease in a patient with lung adenocarcinoma harboring ERBB2 (HER2) E812K (PMID: 30149884; NCT02979821). 30149884