Gene Variant Detail

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Gene CDH1
Variant R732Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDH1 R732Q lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). R732Q confers a loss of function to the Cdh1 protein as indicated by reduced cell-cell adhesion and increased invasion in culture (PMID: 15235021).
Associated Drug Resistance

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Transcript NM_004360
gDNA chr16:g.68828204G>A
cDNA c.2195G>A
Protein p.R732Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004360 chr16:g.68828204G>A c.2195G>A p.R732Q 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CDH1 mutant stomach cancer not applicable N/A Clinical Study Diagnostic Pathogenic germline CDH1 mutations are used in the diagnosis of hereditary diffuse gastric cancer (PMID: 26380059, PMID: 26182300). 26380059 26182300
CDH1 mutant stomach cancer not applicable N/A Guideline Risk Factor Germline truncating mutations in CDH1 are associated with hereditary diffuse gastric cancer, which is characterized by increased risk of developing gastric cancer (NCCN.org). detail...
Molecular Profile Protein Effect Treatment Approaches
CDH1 R732Q loss of function