Gene Variant Detail

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Gene ERBB2
Variant L755_T759del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions ERBB2 (HER2) L755_T759del results in the deletion of five amino acids in the protein kinase domain of the Erbb2 (Her2) protein from amino acids 755 to 759 (UniProt.org). L755_T759del confers a gain of function to the Erbb2 (Her2) protein as demonstrated by increased phosphorylation of Egfr and Erbb3 (Her3), tumor growth (PMID: 23220880), and is transforming in cell culture (PMID: 29533785).
Associated Drug Resistance

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Transcript NM_004448
gDNA chr17:g.39723967_39723981del15
cDNA c.2264_2278del15
Protein p.L755_T759delLRENT
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001289937 chr17:g.39723967_39723981del15 c.2264_2278del15 p.L755_T759delLRENT RefSeq GRCh38/hg38
NM_001289936 chr17:g.39724727_39724741del15 c.2264_2278del15 p.E755_M759delEAYVM RefSeq GRCh38/hg38
NM_001005862 chr17:g.39724773_39724787del15 c.2265_2279del15 p.L756_L760delLGICL RefSeq GRCh38/hg38
NM_004448 chr17:g.39723967_39723981del15 c.2264_2278del15 p.L755_T759delLRENT 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.
  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
ERBB2 L755_T759del 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 L755_T759del breast cancer sensitive Neratinib Preclinical Actionable In a preclinical study, breast cancer cells expressing ERBB2 (HER2) L755_T759del were sensitive to treatment with Nerlynx (neratinib) (PMID: 23220880). 23220880
ERBB2 L755_T759del breast cancer resistant Lapatinib Preclinical Actionable In a preclinical study, breast cancer cells expressing ERBB2 (HER2) L755_T759del were resistant to treatment with Tykerb (lapatinib), resulting in decreased growth inhibition (PMID: 23220880). 23220880
ERBB2 L755_T759del breast cancer sensitive Gefitinib Preclinical Actionable In a preclinical study, breast cancer cells expressing ERBB2 (HER2) L755_T759del were sensitive to treatment with Iressa (gefitinib) (PMID: 23220880). 23220880