Gene Variant Detail

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Gene ERBB2
Variant A775_G776insSVMA
Impact List insertion
Protein Effect gain of function - predicted
Gene Variant Descriptions ERBB2 (HER2) A775_G776insSVMA results in the insertion of four amino acids in the protein kinase domain of the Erbb2 (Her2) protein between amino acids 775 and 776 (UniProt.org). A775_G776insSVMA has not been characterized however, because similar exon 20 insertion mutations are activating (PMID: 17311002), A775_G776insSVMA is predicted to lead to activation of Erbb2 (Her2).
Associated Drug Resistance

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Transcript NM_004448
gDNA chr17:g.39724743_39724744insAGCGTAATGGCA
cDNA c.2325_2326insAGCGTAATGGCA
Protein p.A775_G776insSVMA
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001289937 chr17:g.39724743_39724744insAGCGTAATGGCA c.2325_2326insAGCGTAATGGCA p.A775_G776insSVMA RefSeq GRCh38/hg38
NM_004448 chr17:g.39724743_39724744insAGCGTAATGGCA c.2325_2326insAGCGTAATGGCA p.A775_G776insSVMA 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"

Sorting

  • 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 A775_G776insSVMA gain of function - predicted HER inhibitor (Pan) HER2 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References