Gene Variant Detail

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Gene ERBB2
Variant P247S
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions ERBB2 (HER2) P247S lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). P247S has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) (PMID: 29533785) and therefore, it is predicted to have no effect on Erbb2 (Her2) protein function.
Associated Drug Resistance

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Transcript NM_004448
gDNA chr17:g.39710181C>T
cDNA c.739C>T
Protein p.P247S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001289937 chr17:g.39710181C>T c.739C>T p.P247S RefSeq GRCh38/hg38
NM_004448 chr17:g.39710181C>T c.739C>T p.P247S 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 P247S no effect - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References