Gene Variant Detail

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Gene ERBB2
Variant Y1248F
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ERBB2 (HER2) Y1248F lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). Y1248F results in constitutive dephosphorylation of Erbb2 (Her2), which leads to endosomal internalization and lysosomal degradation of Erbb2 (Her2) in cell lines (PMID: 27345410) and therefore, is predicted to result in a loss of Erbb2 (Her2) protein function.
Associated Drug Resistance

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Transcript NM_004448
gDNA chr17:g.39728019A>T
cDNA c.3743A>T
Protein p.Y1248F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004448 chr17:g.39728019A>T c.3743A>T p.Y1248F 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 Y1248F loss of function - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References