Gene Variant Detail

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Gene CDH1
Variant R749W
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDH1 R749W lies within the cytoplasmic domain of the Cdh1 protein (UniProt.org). R749W confers a loss of function to the Cdh1 protein as demonstrated by loss of p120 association, decreased protein stability of Cdh1, increased Egfr signaling, increased motility, and an invasive phenotype in culture (PMID: 22850631, PMID: 19268661).
Associated Drug Resistance

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Transcript NM_004360
gDNA chr16:g.68828254C>T
cDNA c.2245C>T
Protein p.R749W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004360 chr16:g.68828254C>T c.2245C>T p.R749W 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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
CDH1 R749W loss of function