Gene Variant Detail

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Gene ERBB2
Variant D769H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ERBB2 (HER2) D769H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D769H confers resistance to selected tyrosine kinase inhibitors (PMID: 31588020), results in constitutive phosphorylation of Erbb2 (Her2), activation of downstream signaling, is transforming in cell culture (PMID: 29967253, PMID: 31588020), and promotes tumor formation in xenograft models (PMID: 23220880), however, in another study, induces similar cell proliferation and cell viability to wild-type Erbb2 (Her2) in two different cell lines (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>C
cDNA c.2305G>C
Protein p.D769H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004448 chr17:g.39724008G>C c.2305G>C p.D769H RefSeq GRCh38/hg38
NM_001289937 chr17:g.39724008G>C c.2305G>C p.D769H 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 D769H unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB2 D769H Advanced Solid Tumor sensitive Nazartinib Preclinical - Cell culture Actionable In a preclinical study, Nazartinib (EGF816) inhibited survival of transformed cells expressing ERBB2 (HER2) D769H in culture (PMID: 31588020). 31588020
ERBB2 D769H Advanced Solid Tumor resistant Sapitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ERBB2 (HER2) D769H were resistant to Sapitinib (AZD8931) in culture (PMID: 31588020). 31588020
ERBB2 D769H Advanced Solid Tumor sensitive Tarloxotinib Preclinical - Cell culture Actionable In a preclinical study, Tarloxotinib (TRLX) inhibited survival of transformed cells expressing ERBB2 (HER2) D769H in culture (PMID: 31588020). 31588020
ERBB2 D769H Advanced Solid Tumor sensitive Osimertinib Preclinical - Cell culture Actionable In a preclinical study, Tagrisso (osimertinib) inhibited survival of transformed cells expressing ERBB2 (HER2) D769H in culture (PMID: 31588020). 31588020
ERBB2 D769H breast cancer sensitive Trastuzumab Preclinical Actionable In a preclinical study, transformed human breast cell lines expressing ERBB2 D769H reverted to normal morphology in culture upon Herceptin (trastuzumab) treatment (PMID: 23220880). 23220880
ERBB2 D769H Advanced Solid Tumor resistant Lapatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ERBB2 (HER2) D769H were resistant to Tykerb (lapatinib) in culture (PMID: 31588020). 31588020
ERBB2 D769H breast cancer sensitive Neratinib Preclinical Actionable In a preclinical study, transformed human breast cell lines expressing ERBB2 (HER2) D769H demonstrated growth inhibition when treated with Nerlynx (neratinib) (PMID: 23220880). 23220880
ERBB2 D769H Advanced Solid Tumor sensitive Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, Imbruvica (ibrutinib) inhibited survival of transformed cells expressing ERBB2 (HER2) D769H in culture (PMID: 31588020). 31588020
ERBB2 D769H breast cancer sensitive Lapatinib Preclinical Actionable In a preclinical study, transformed human breast cell lines expressing ERBB2 D769H demonstrated growth inhibition when treated with Tykerb (lapatinib) (PMID: 23220880). 23220880
ERBB2 D769H colorectal cancer predicted - resistant Neratinib Phase II Actionable In a Phase II trial (SUMMIT), Nerlynx (neratinib) treatment resulted in progressive disease with a progression-free survival of 1.9 months in a patient with colorectal cancer harboring ERBB2 (HER2) D769H (PMID: 29420467; NCT01953926). 29420467
ERBB2 D769H Advanced Solid Tumor sensitive Poziotinib Preclinical - Cell culture Actionable In a preclinical study, Poziotinib (HM781-36B) inhibited survival of transformed cells expressing ERBB2 (HER2) D769H in culture (PMID: 31588020). 31588020
ERBB2 D769H Advanced Solid Tumor sensitive Afatinib Preclinical - Cell culture Actionable In a preclinical study, Gilotrif (afatinib) inhibited survival of transformed cells expressing ERBB2 (HER2) D769H in culture (PMID: 31588020). 31588020
ERBB2 D769H Advanced Solid Tumor sensitive Dacomitinib Preclinical - Cell culture Actionable In a preclinical study, Vizimpro (dacomitinib) inhibited survival of transformed cells expressing ERBB2 (HER2) D769H in culture (PMID: 31588020). 31588020
ERBB2 D769H Advanced Solid Tumor sensitive Pyrotinib Preclinical - Cell culture Actionable In a preclinical study, Pyrotinib inhibited survival of transformed cells expressing ERBB2 (HER2) D769H in culture (PMID: 31588020). 31588020
ERBB2 D769H Her2-receptor negative breast 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 Erbb2 (Her2) receptor negative (non-amplified) breast cancer harboring ERBB2 (HER2) D769H (PMID: 29420467; NCT01953926). 29420467