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|Synonyms||Arc-1 | BCDS1 | CD324 | CDHE | ECAD | LCAM | UVO|
|Gene Description||CDH1, cadherin 1, type 1, encodes E-Cadherin and is a tumor suppressor (PMID: 30562755) involved in epithelial cell-cell adhesion, cell signaling, differentiation, and polarity (PMID: 18726070, PMID: 26674224). CDH1 germline mutations are associated with hereditary diffuse gastric cancer (PMID: 30562755) and somatic mutations are found in gastric, breast, colon, and NSCLC cancers (PMID: 27283171, PMID: 25184143).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|inact mut||unknown||loss of function||CDH1 inact mut indicates that this variant results in a loss of function of the Cdh1 protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||CDH1 mutant indicates an unspecified mutation in the CDH1 gene.|
|V660fs||frameshift||loss of function - predicted||CDH1 V660fs results in a change in the amino acid sequence of the Cdh1 protein beginning at aa 660 of 882, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the catenin-binding region (UniProt.org), V660fs is predicted to lead to a loss of Cdh1 protein function.|
|W409fs||frameshift||loss of function - predicted||CDH1 W409fs results in a change in the amino acid sequence of the Cdh1 protein beginning at aa 409 of 882, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the catenin-binding region (UniProt.org), W409fs is predicted to lead to a loss of Cdh1 protein function.|