Gene Variant Detail

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Gene ERBB2
Variant K753E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ERBB2 (HER2) K753E lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). K753E does not result in increased phosphorylation of Erbb2 (Her2) or downstream PLC-gamma, and results in similar tumor formation to wild-type Erbb2 (Her2) in mouse models, however, results in increased Egfr phosphorylation and is associated with resistance to some Erbb2 (Her2) inhibitors (PMID: 27697991, PMID: 29389942).
Associated Drug Resistance Y

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Transcript NM_004448
gDNA chr17:g.39723960A>G
cDNA c.2257A>G
Protein p.K753E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004448 chr17:g.39723960A>G c.2257A>G p.K753E RefSeq GRCh38/hg38
NM_001289937 chr17:g.39723960A>G c.2257A>G p.K753E 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 K753E unknown Neratinib
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB2 K753E breast cancer sensitive Neratinib Preclinical - Cell culture Actionable In a preclinical study, transformed human breast cells expressing ERBB2 (HER2) K753 were sensitive to Nerlynx (neratinib) in culture, resulting in decreased colony formation (PMID: 27697991). 27697991
ERBB2 K753E breast cancer resistant Lapatinib Preclinical - Cell culture Actionable In a preclinical study, transformed human breast cells expressing ERBB2 (HER2) K753E were resistant to Tykerb (lapatinib) in culture (PMID: 27697991). 27697991
ERBB2 K753E breast cancer resistant Trastuzumab Preclinical - Cell culture Actionable In a preclinical study, transformed human breast cells expressing ERBB2 (HER2) K753E were resistant to Herceptin (trastuzumab) in culture (PMID: 27697991). 27697991