Gene Variant Detail

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Gene ERBB2
Variant R456C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ERBB2 (HER2) R456C lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). R456C has been identified in the scientific literature (PMID: 30301790), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Sep 2019).
Associated Drug Resistance

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Transcript NM_004448
gDNA chr17:g.39715792C>T
cDNA c.1366C>T
Protein p.R456C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004448 chr17:g.39715792C>T c.1366C>T p.R456C RefSeq GRCh38/hg38
NM_001289937 chr17:g.39715792C>T c.1366C>T p.R456C 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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
ERBB2 R456C unknown
ERBB2 R456C ERBB2 amp
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB2 R456C ERBB2 amp Her2-receptor positive breast cancer predicted - sensitive Neratinib Case Reports/Case Series Actionable In a clinical study, Nerlynx (neratinib) treatment resulted in partial response in 2 of 6 and disease stabilization in 4 of 6 breast cancer patients with ERBB2 (HER2) amplification and an ERBB2 (HER2) mutation, including stable disease in a patient harboring ERBB2 (HER2) R456C (PMID: 30301790). 30301790