Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene ERBB2
Variant N813D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ERBB2 (HER2) N813D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). N813D has been identified in the scientific literature (PMID: 29215816), but has not been biochemically characterized, and therefore its effect on Erbb2 (Her2) protein function is unknown (PubMed, Sep 2019).
Associated Drug Resistance

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.

Transcript NM_004448
gDNA chr17:g.39724855A>G
cDNA c.2437A>G
Protein p.N813D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004448 chr17:g.39724855A>G c.2437A>G p.N813D RefSeq GRCh38/hg38
NM_001289937 chr17:g.39724855A>G c.2437A>G p.N813D 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 N813D unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB2 N813D lung adenocarcinoma predicted - sensitive Afatinib Phase II Actionable In a Phase II trial, Gilotrif (afatinib) treatment resulted in partial response in a patient with lung adenocarcinoma harboring ERBB2 (HER2) N813D (PMID: 30149884; NCT02979821). 30149884