ERBB3 D297Y
Gene Variant Detail

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Gene ERBB3
Variant D297Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ERBB3 (HER3) D297Y lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). The functional effect of D297Y is conflicting as it demonstrates increased cell proliferation, but not elevated downstream signaling in ER-positive breast cancer cells; however, leads to increased cell proliferation and downstream signaling in Erbb2 (Her2)-overexpressing cells relative to wild-type (PMID: 29963236), and in another study results in similar cell proliferation and viability levels as wild-type Erbb3 (Her3) (PMID: 29533785), and therefore, its effect on Erbb3 (Her3) protein function is unknown.
Associated Drug Resistance
Category Variants Paths

ERBB3 mutant ERBB3 D297Y

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Transcript NM_001982.4
gDNA chr12:g.56088557G>T
cDNA c.889G>T
Protein p.D297Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001982.3 chr12:g.56088557G>T c.889G>T p.D297Y RefSeq GRCh38/hg38
NM_001982 chr12:g.56088557G>T c.889G>T p.D297Y RefSeq GRCh38/hg38
NM_001982.4 chr12:g.56088557G>T c.889G>T p.D297Y RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB3 mutant invasive bladder transitional cell carcinoma predicted - sensitive Cisplatin + Gemcitabine + Sorafenib Phase II Actionable In a Phase II trial, ERBB3 mutations were only detected in patients with muscle-invasive urothelial bladder cancer that responded to Nexavar (sorafenib), Platinol (cisplatin) and Gemzar (gemcitabine) combination therapy (J Clin Oncol 35, 2017 (suppl 6S; abstract 345)). detail...
ERBB3 mutant Advanced Solid Tumor no benefit Neratinib Phase II Actionable In a Phase II trial (SUMMIT), Nerlynx (neratinib) treatment resulted in no objective response, a clinical benefit rate of 12.5% (2/16), and a median progression-free survival of 1.7 months in patients with advanced solid tumors harboring ERBB3 (HER3) mutations (PMID: 29420467; NCT01953926). 29420467