Gene Variant Detail

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Gene CDH1
Variant T560R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDH1 T560R lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). T560R results in alternative splicing due to the creation of a novel splicing site (PMID: 27880784), but confers a loss of function to the Cdh1 protein as indicated by decreased protein expression, disruption of cellular aggregation, and protein localization to the plasma membrane (PMID: 29769627).
Associated Drug Resistance

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Transcript NM_004360
gDNA chr16:g.68819393C>G
cDNA c.1679C>G
Protein p.T560R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004360 chr16:g.68819393C>G c.1679C>G p.T560R 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
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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 T560R loss of function