Gene Variant Detail

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Gene CDH1
Variant L583R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDH1 L583R lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). L583R results in aberrant maturation and decreased stability of Cdh1 protein, and leads to scattered cell distribution, indicating reduction of Cdh1 adhesive function in cell culture (PMID: 22470475).
Associated Drug Resistance

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Transcript NM_004360
gDNA chr16:g.68822037T>G
cDNA c.1748T>G
Protein p.L583R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004360 chr16:g.68822037T>G c.1748T>G p.L583R 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
CDH1 L583R loss of function
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References