Gene Variant Detail

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Gene ERBB2
Variant L786V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ERBB2 (HER2) L786V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L786V results in constitutive phosphorylation of Erbb2 (Her2), increased downstream signaling, is transforming in cell culture, and confers resistance to selected tyrosine kinase inhibitors (PMID: 31588020).
Associated Drug Resistance Y

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Transcript NM_004448
gDNA chr17:g.39724774C>G
cDNA c.2356C>G
Protein p.L786V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004448 chr17:g.39724774C>G c.2356C>G p.L786V RefSeq GRCh38/hg38
NM_001289937 chr17:g.39724774C>G c.2356C>G p.L786V 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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  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
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Molecular Profile Protein Effect Treatment Approaches
ERBB2 L786V 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 L786V Advanced Solid Tumor sensitive Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, Imbruvica (ibrutinib) inhibited survival of transformed cells expressing ERBB2 (HER2) L768V in culture (PMID: 31588020). 31588020
ERBB2 L786V Advanced Solid Tumor sensitive Osimertinib Preclinical - Cell culture Actionable In a preclinical study, Tagrisso (osimertinib) inhibited survival of transformed cells expressing ERBB2 (HER2) L786V in culture (PMID: 31588020). 31588020
ERBB2 L786V Advanced Solid Tumor sensitive Nazartinib Preclinical - Cell culture Actionable In a preclinical study, Nazartinib (EGF816) inhibited survival of transformed cells expressing ERBB2 (HER2) L786V in culture (PMID: 31588020). 31588020
ERBB2 L786V Advanced Solid Tumor resistant Lapatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ERBB2 (HER2) L786V were resistant to Tykerb (lapatinib) in culture (PMID: 31588020). 31588020
ERBB2 L786V Advanced Solid Tumor sensitive Afatinib Preclinical - Cell culture Actionable In a preclinical study, Gilotrif (afatinib) inhibited survival of transformed cells expressing ERBB2 (HER2) L786V in culture (PMID: 31588020). 31588020
ERBB2 L786V Advanced Solid Tumor resistant Sapitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ERBB2 (HER2) L786V were resistant to Sapitinib (AZD8931) in culture (PMID: 31588020). 31588020
ERBB2 L786V Advanced Solid Tumor sensitive Pyrotinib Preclinical - Cell culture Actionable In a preclinical study, Pyrotinib inhibited survival of transformed cells expressing ERBB2 (HER2) L786V in culture (PMID: 31588020). 31588020
ERBB2 L786V Advanced Solid Tumor sensitive Dacomitinib Preclinical - Cell culture Actionable In a preclinical study, Vizimpro (dacomitinib) inhibited survival of transformed cells expressing ERBB2 (HER2) L786V in culture (PMID: 31588020). 31588020
ERBB2 L786V lung non-small cell carcinoma 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 3.7 months in a patient with non-small cell lung cancer harboring ERBB2 (HER2) L786V (PMID: 29420467; NCT01953926). 29420467
ERBB2 L786V Advanced Solid Tumor sensitive Tarloxotinib Preclinical - Cell culture Actionable In a preclinical study, Tarloxotinib (TRLX) inhibited survival of transformed cells expressing ERBB2 (HER2) L786V in culture (PMID: 31588020). 31588020
ERBB2 L786V Advanced Solid Tumor sensitive Poziotinib Preclinical - Cell culture Actionable In a preclinical study, Poziotinib (HM781-36B) inhibited survival of transformed cells expressing ERBB2 (HER2) L786V in culture (PMID: 31588020). 31588020