Gene Variant Detail

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Gene ERBB2
Variant D769N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ERBB2 (HER2) D769N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D769N confers resistance to selected tyrosine kinase inhibitors, results in activation of Erbb2 (Her2) downstream signaling, and is transforming in culture in one study (PMID: 31588020), but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in another study (PMID: 29533785), and therefore, its effect on Erbb2 (Her2) protein function is unknown.
Associated Drug Resistance Y

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Transcript NM_004448
gDNA chr17:g.39724008G>A
cDNA c.2305G>A
Protein p.D769N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001289937 chr17:g.39724008G>A c.2305G>A p.D769N RefSeq GRCh38/hg38
NM_004448 chr17:g.39724008G>A c.2305G>A p.D769N 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
ERBB2 D769N unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB2 D769N Advanced Solid Tumor sensitive Lapatinib Preclinical - Cell culture Actionable In a preclinical study, Tykerb (lapatinib) inhibited growth of transformed cells expressing ERBB2 (HER2) D769H in culture (PMID: 31588020). 31588020
ERBB2 D769N Advanced Solid Tumor sensitive Tarloxotinib Preclinical - Cell culture Actionable In a preclinical study, Tarloxotinib (TRLX) inhibited survival of transformed cells expressing ERBB2 (HER2) D769N in culture (PMID: 31588020). 31588020
ERBB2 D769N Advanced Solid Tumor sensitive Dacomitinib Preclinical - Cell culture Actionable In a preclinical study, Vizimpro (dacomitinib) inhibited survival of transformed cells expressing ERBB2 (HER2) D769N in culture (PMID: 31588020). 31588020
ERBB2 D769N Advanced Solid Tumor sensitive Pyrotinib Preclinical - Cell culture Actionable In a preclinical study, Pyrotinib inhibited survival of transformed cells expressing ERBB2 (HER2) D769N in culture (PMID: 31588020). 31588020
ERBB2 D769N cervical cancer no benefit Neratinib Phase II Actionable In a Phase II trial (SUMMIT), Nerlynx (neratinib) treatment resulted in stable disease with a progression-free survival of 3.5 months in a patient with cervical cancer harboring ERBB2 (HER2) D769N (PMID: 29420467; NCT01953926). 29420467
ERBB2 D769N Advanced Solid Tumor sensitive Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, Imbruvica (ibrutinib) inhibited survival of transformed cells expressing ERBB2 (HER2) D769N in culture (PMID: 31588020). 31588020
ERBB2 D769N Advanced Solid Tumor sensitive Poziotinib Preclinical - Cell culture Actionable In a preclinical study, Poziotinib (HM781-36B) inhibited survival of transformed cells expressing ERBB2 (HER2) D769N in culture (PMID: 31588020). 31588020
ERBB2 D769N Advanced Solid Tumor sensitive Osimertinib Preclinical - Cell culture Actionable In a preclinical study, Tagrisso (osimertinib) inhibited survival of transformed cells expressing ERBB2 (HER2) D769N in culture (PMID: 31588020). 31588020
ERBB2 D769N Advanced Solid Tumor resistant Sapitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ERBB2 (HER2) D769N were resistant to Sapitinib (AZD8931) in culture (PMID: 31588020). 31588020
ERBB2 D769N Advanced Solid Tumor sensitive Nazartinib Preclinical - Cell culture Actionable In a preclinical study, Nazartinib (EGF816) inhibited survival of transformed cells expressing ERBB2 (HER2) D769N in culture (PMID: 31588020). 31588020
ERBB2 D769N Advanced Solid Tumor sensitive Afatinib Preclinical - Cell culture Actionable In a preclinical study, Gilotrif (afatinib) inhibited survival of transformed cells expressing ERBB2 (HER2) D769N in culture (PMID: 31588020). 31588020