Gene Variant Detail

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Gene ERBB2
Variant G309A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ERBB2 (HER2) G309A lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). G309A does not result in increased Erbb2 (Her2) phosphorylation, but is transforming in cell culture and promotes tumor formation in xenograft models, and is predicted to enhance Erbb2 (Her2) dimerization in one study (PMID: 23220880), however, in another study, G309A results in similar cell proliferation and viability levels to wild-type Erbb2 (Her2) in two different cell lines in culture (PMID: 29533785), and therefore, its effect on Erbb2 (Her2) protein function is unknown.
Associated Drug Resistance

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Transcript NM_004448
gDNA chr17:g.39711952G>C
cDNA c.926G>C
Protein p.G309A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004448 chr17:g.39711952G>C c.926G>C p.G309A RefSeq GRCh38/hg38
NM_001289937 chr17:g.39711952G>C c.926G>C p.G309A 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 G309A unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB2 G309A breast cancer sensitive Lapatinib Preclinical Actionable In a preclinical study, transformed human breast cell lines expressing ERBB2 G309A demonstrated growth inhibition when treated with Tykerb (lapatinib) (PMID: 23220880). 23220880
ERBB2 G309A breast cancer sensitive Trastuzumab Preclinical Actionable In a preclinical study, transformed human breast cell lines expressing ERBB2 G309A reverted to normal morphology in culture upon Herceptin (trastuzumab) treatment (PMID: 23220880). 23220880
ERBB2 G309A breast cancer sensitive Neratinib Preclinical Actionable In a preclinical study, transformed human breast cell lines expressing ERBB2 (HER2) G309A demonstrated growth inhibition when treated with Nerlynx (neratinib) (PMID: 23220880). 23220880