Gene Variant Detail

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Gene ERBB2
Variant L726F
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ERBB2 (HER2) L726F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L726F confers a gain of function to the Erbb2 (Her2) protein as indicated by increased cell proliferation in culture, increased tumor growth in vivo, and localization to the perinuclear cytoplasm (PMID: 25435280).
Associated Drug Resistance

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Transcript NM_004448
gDNA chr17:g.39723628C>T
cDNA c.2176C>T
Protein p.L726F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001289937 chr17:g.39723628C>T c.2176C>T p.L726F RefSeq GRCh38/hg38
NM_004448 chr17:g.39723628C>T c.2176C>T p.L726F 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 L726F gain of function HER inhibitor (Pan) HER2 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB2 L726F Advanced Solid Tumor decreased response Lapatinib Preclinical Actionable In a preclinical study, transformed cells over expressing ERBB2 (HER2) L726F demonstrated reduced sensitivity to Tykerb (lapatinib) in culture (PMID: 18413839). 18413839
ERBB2 L726F Advanced Solid Tumor sensitive XL647 Preclinical - Cell culture Actionable In a preclinical study, XL647 inhibited survival of transformed cells over expressing ERBB2 (HER2) L726F in culture (PMID: 18413839). 18413839
ERBB2 L726F breast cancer resistant Lapatinib Preclinical Actionable In a preclinical study, breast cancer cells expressing ERBB2 (HER2) L726F demonstrated resistance to Tykerb (lapatinib) in both culture and xenograft models (PMID: 25435280). 25435280