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Gene Symbol CDH1
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).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A102T missense unknown CDH1 A102T lies within the propeptide region of the Cdh1 protein (UniProt.org). A102T has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
A298T missense loss of function CDH1 A298T lies within the Cadherin-1 domain of the Cdh1 protein (UniProt.org). A298T confers a loss of function to the Cdh1 protein as demonstrated by reduced interaction with Egfr, increased cell motility, increased Egfr signaling, and increased p38 Mapk signaling in culture (PMID: 19268661).
A299S missense unknown CDH1 A299S lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). A299S has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
A403T missense unknown CDH1 A403T lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). A403T has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
A592S missense unknown CDH1 A592S lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). A592S results in a splicing pattern similar to wild-type Cdh1 in culture (PMID: 28608266), but has not been fully biochemically characterized and therefore, its effect on Cdh1 protein function is unknown.
A592T missense unknown CDH1 A592T lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). A592T has been identified in the scientific literature (PMID: 20921021, PMID: 24204729), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
A634V missense gain of function CDH1 A634V lies within the Cadherin domain 5 of the Cdh1 protein (UniProt.org). A634V results in a gain of function of the Cdh1 protein as indicated by altered tissue localization and cell migration (PMID: 16600987, PMID: 14500541) and increased expression of RhoA in Drosophila (PMID: 14500541).
A691T missense unknown CDH1 A691T lies within the Cadherin domain 5 of the Cdh1 protein (UniProt.org). A691T has been identified in the scientific literature (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
A692T missense unknown CDH1 A692T lies within the Cadherin domain 5 of the Cdh1 protein (UniProt.org). A692T has been identified in the scientific literature (PMID: 27978560), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
A709V missense unknown CDH1 A709V lies within the extracellular domain of the Cdh1 protein (UniProt.org). A709V has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
A719V missense unknown CDH1 A719V lies within the transmembrane domain of the Cdh1 protein (UniProt.org). A719V has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
A735V missense unknown CDH1 A735V lies within the cytoplasmic domain of the Cdh1 protein (UniProt.org). A735V has been identified in sequencing studies (PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
A817V missense unknown CDH1 A817V lies within the region of the Cdh1 protein required for binding catenins (UniProt.org). A817V has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
A824Gfs*5 frameshift loss of function - predicted CDH1 A824Gfs*5 indicates a shift in the reading frame starting at amino acid 824 and terminating 5 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). Due to the loss of the majority of the catenin-binding region (UniProt.org), A824Gfs*5 is predicted to lead to a loss of Cdh1 protein function.
A824V missense unknown CDH1 A824V lies within the region of the Cdh1 protein required for binding catenins (UniProt.org). A824V has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
C163Afs*52 frameshift loss of function - predicted CDH1 C163Afs*52 indicates a shift in the reading frame starting at amino acid 163 and terminating 52 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). C163Afs*52 is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and possible increased cell migration (PMID: 26901067).
D221H missense unknown CDH1 D221H lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). D221H has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D254N missense unknown CDH1 D254N lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). D254N has been identified in sequencing studies (PMID: 28744403), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D254Y missense unknown CDH1 D254Y lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). D254Y has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D257G missense unknown CDH1 D257G lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). D257G has been identified in sequencing studies (PMID: 28522256), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D257N missense unknown CDH1 D257N lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). D257N has been identified in the scientific literature (PMID: 24690483), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D257V missense unknown CDH1 D257V lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). D257V has been identified in sequencing studies (PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D288N missense unknown CDH1 D288N lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). D288N has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D288V missense unknown CDH1 D288V lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). D288V has been identified in sequencing studies (PMID: 24816255), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D290G missense unknown CDH1 D290G lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). D290G has been identified in sequencing studies (PMID: 30239046), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D291Mfs*3 frameshift loss of function - predicted CDH1 D291Mfs*3 indicates a shift in the reading frame starting at amino acid 291 and terminating 3 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). Due to the loss of the cytoplasmic domain (UniProt.org), D291Mfs*3 is predicted to lead to a loss of Cdh1 protein function.
D291N missense unknown CDH1 D291N lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). D291N has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D313N missense unknown CDH1 D313N lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). D313N has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D370N missense unknown CDH1 D370N lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). D370N has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D400A missense unknown CDH1 D400A lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). D400A has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D400del deletion unknown CDH1 D400del results in the deletion of one amino acid in the Cadherin domain 3 of the Cdh1 protein at amino acid 400 (UniProt.org). D400del has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D400V missense unknown CDH1 D400V lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). D400V has been identified in sequencing studies (PMID: 31949278), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D402H missense unknown CDH1 D402H lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). D402H has been identified in the scientific literature (PMID: 22152101), but has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D402N missense unknown CDH1 D402N lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). D402N has been identified in the scientific literature (PMID: 11313896), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D402V missense unknown CDH1 D402V lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). D402V has been identified in sequencing studies (PMID: 26489445), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D418N missense unknown CDH1 D418N lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). D418N has been identified in sequencing studies (PMID: 22980975), but has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D433N missense unknown CDH1 D433N lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). D433N has been identified in the scientific literature (PMID: 20921021), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D549H missense unknown CDH1 D549H lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). D549H has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D549Y missense unknown CDH1 D549Y lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). D549Y has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D552N missense unknown CDH1 D552N lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). D552N has been identified in sequencing studies (PMID: 20668451), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D587H missense unknown CDH1 D587H lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). D587H has been identified in sequencing studies (PMID: 24686850), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D587Y missense unknown CDH1 D587Y lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). D587Y has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D644N missense unknown CDH1 D644N lies within the Cadherin domain 5 of the Cdh1 protein (UniProt.org). D644N has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
D764Gfs*5 frameshift loss of function - predicted CDH1 D764Gfs*5 indicates a shift in the reading frame starting at amino acid 764 and terminating 5 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). Due to the loss of the majority of the catenin-binding region (UniProt.org), D764Gfs*5 is predicted to lead to a loss of Cdh1 protein function.
D805* nonsense loss of function - predicted CDH1 D805* results in a premature truncation of the Cdh1 protein at amino acid 805 of 882 (UniProt.org). Due to the loss of the catenin-binding region (UniProt.org), D805* is predicted to lead to a loss of Cdh1 protein.
D858E missense unknown CDH1 D858E lies within the region of the Cdh1 protein required for binding catenins (UniProt.org). D858E has been identified in sequencing studies (PMID: 21798893), but has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
E165Q missense unknown CDH1 E165Q lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). E165Q has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
E185V missense no effect CDH1 E185V lies within the extracellular Cadherin 1 domain of the Cdh1 protein (UniProt.org). E185V demonstrates normal adhesion function in cell assays, in agreement with predictive modeling (PMID: 22470475).
E243* nonsense loss of function - predicted CDH1 E243* results in a premature truncation of the Cdh1 protein at amino acid 243 of 882 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E243* is predicted to lead to a loss of Cdh1 protein function.
E243K missense unknown CDH1 E243K lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). E243K has been identified in sequencing studies (PMID: 23000897, PMID: 32197944), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
E243Q missense unknown CDH1 E243Q lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). E243Q has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
E247* nonsense loss of function - predicted CDH1 E247* results in a premature truncation of the Cdh1 protein at amino acid 247 of 882 (UniProt.org). E247* is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and possible increased cell migration (PMID: 26901067).
E247K missense unknown CDH1 E247K lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). E247K has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
E261K missense unknown CDH1 E261K lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). E261K has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
E273K missense unknown CDH1 E273K lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). E273K has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
E336K missense unknown CDH1 E336K lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). E336K has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
E35* nonsense loss of function - predicted CDH1 E35* results in a premature truncation of the Cdh1 protein at amino acid 35 of 882 (UniProt.org). E35* is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and possible increased cell migration (PMID: 26901067).
E386K missense unknown CDH1 E386K lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). E386K has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
E445A missense unknown CDH1 E445A lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). E445A has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
E445Q missense unknown CDH1 E445Q lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). E445Q has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
E463* nonsense loss of function - predicted CDH1 E463* results in a premature truncation of the Cdh1 protein at amino acid 463 of 882 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E463* is predicted to lead to a loss of Cdh1 protein function.
E490K missense unknown CDH1 E490K lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). E490K has been identified in sequencing studies (PMID: 22722201), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
E494* nonsense loss of function - predicted CDH1 E494* results in a premature truncation of the Cdh1 protein at amino acid 494 of 882 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E494* is predicted to lead to a loss of Cdh1 protein function.
E497K missense unknown CDH1 E497K lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). E497K has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
E512* nonsense loss of function - predicted CDH1 E512* results in a premature truncation of the Cdh1 protein at amino acid 512 of 882 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E512* is predicted to lead to a loss of Cdh1 protein function.
E551K missense unknown CDH1 E551K lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). E551K has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
E58* nonsense loss of function - predicted CDH1 E58* results in a premature truncation of the Cdh1 protein at amino acid 58 of 882 (UniProt.org). E58* is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and possible increased cell migration (PMID: 26901067).
E58Q missense unknown CDH1 E58Q lies within the propeptide region of the Cdh1 protein (UniProt.org). E58Q has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
E648* nonsense loss of function - predicted CDH1 E648* results in a premature truncation of the Cdh1 protein at amino acid 648 of 882 (UniProt.org). E648* is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and possible increased cell migration (PMID: 26901067).
E757K missense loss of function CDH1 E757K lies within the cytoplasmic domain of the Cdh1 protein (UniProt.org). E757K confers a loss of function to the Cdh1 protein as demonstrated by reduced cell surface expression, reduced interaction with Egfr, increased Egfr signaling, and increased cell motility in culture (PMID: 19268661).
E781D missense loss of function CDH1 E781D lies within the cytoplasmic domain of the Cdh1 protein (UniProt.org). E781D results in aberrant subcellular localization, reduced p120 association, decreased interaction with beta-catenin, and an invasive phenotype in culture (PMID: 22850631).
E806* nonsense loss of function - predicted CDH1 E806* results in a premature truncation of the Cdh1 protein at amino acid 806 of 882 (UniProt.org). E806* is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and possible increased cell migration (PMID: 26901067).
E841K missense unknown CDH1 E841K lies within the region of the Cdh1 protein required for binding catenins (UniProt.org). E841K has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
E852Vfs*8 frameshift unknown CDH1 E852Vfs*8 indicates a shift in the reading frame starting at amino acid 852 and terminating 8 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). E852Vfs*8 has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
F205S missense unknown CDH1 F205S lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). F205S has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
F317S missense unknown CDH1 F317S lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). F317S has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
F462Hfs*16 frameshift loss of function - predicted CDH1 F462Hfs*16 indicates a shift in the reading frame starting at amino acid 462 and terminating 16 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). F462Hfs*16 is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and possible increased cell migration (PMID: 26901067).
F499Lfs*38 frameshift loss of function - predicted CDH1 F499Lfs*38 indicates a shift in the reading frame starting at amino acid 499 and terminating 38 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). Due to the loss of the cytoplasmic domain (UniProt.org), F499Lfs*38 is predicted to lead to a loss of Cdh1 protein function.
F601L missense unknown CDH1 F601L lies within the Cadherin domain 5 of the Cdh1 protein (UniProt.org). F601L has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
F730Vfs*18 frameshift loss of function - predicted CDH1 F730Vfs*18 indicates a shift in the reading frame starting at amino acid 730 and terminating 18 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). F730Vfs*18 is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and possible increased cell migration (PMID: 26901067).
F98L missense unknown CDH1 F98L lies within the propeptide region of the Cdh1 protein (UniProt.org). F98L has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
G169Rfs*5 frameshift loss of function - predicted CDH1 G169Rfs*5 indicates a shift in the reading frame starting at amino acid 169 and terminating 5 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), G169Rfs*5 is predicted to lead to a loss of Cdh1 protein function.
G212E missense unknown CDH1 G212E lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). G212E has been identified in sequencing studies (PMID: 24807215), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
G239R missense loss of function CDH1 G239R lies within the extracellular Cadherin 1 domain of the Cdh1 protein (UniProt.org). G239R results in reduced affinity of Cdh1 to Egfr and increased Egfr activation, as well as increased p38 Mapk and Src phosphorylation, and increased cell migration in culture (PMID: 19268661).
G239W missense unknown CDH1 G239W lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). G239W has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
G278* nonsense loss of function - predicted CDH1 G278* results in a premature truncation of the Cdh1 protein at amino acid 278 of 882 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), G278* is predicted to lead to a loss of Cdh1 protein function.
G278R missense unknown CDH1 G278R lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). G278R has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
G278V missense unknown CDH1 G278V lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). G278V has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
G693D missense unknown CDH1 G693D lies within the Cadherin domain 5 of the Cdh1 protein (UniProt.org). G693D has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
G759Efs*11 frameshift loss of function - predicted CDH1 G759Efs*11 indicates a shift in the reading frame starting at amino acid 759 and terminating 11 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). Due to the loss of the majority of the catenin-binding region (UniProt.org), G759Efs*11 is predicted to lead to a loss of Cdh1 protein function.
H128Ifs*87 frameshift loss of function - predicted CDH1 H128Ifs*87 indicates a shift in the reading frame starting at amino acid 128 and terminating 87 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), H128Ifs*87 is predicted to lead to a loss of Cdh1 protein function.
H92D missense unknown CDH1 H92D lies within the propeptide region of the Cdh1 protein (UniProt.org). H92D has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
I192N missense unknown CDH1 I192N lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). I192N has been identified in the scientific literature (PMID: 28522256), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
I248F missense unknown CDH1 I248F lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). I248F has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
I505Sfs*17 frameshift loss of function - predicted CDH1 I505Sfs*17 indicates a shift in the reading frame starting at amino acid 505 and terminating 17 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). Due to the loss of the cytoplasmic domain (UniProt.org), I505Sfs*17 is predicted to lead to a loss of Cdh1 protein function.
I600T missense unknown CDH1 I600T lies within the Cadherin domain 5 of the Cdh1 protein (UniProt.org). I600T has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
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.
K113E missense unknown CDH1 K113E lies within the propeptide region of the Cdh1 protein (UniProt.org). K113E has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
K440N missense unknown CDH1 K440N lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). K440N has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
K447* nonsense loss of function - predicted CDH1 K447* results in a premature truncation of the Cdh1 protein at amino acid 447 of 882 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), K447* is predicted to lead to a loss of Cdh1 protein function.
K557N missense unknown CDH1 K557N lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). K557N has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
K668* nonsense loss of function - predicted CDH1 K668* results in a premature truncation of the Cdh1 protein at amino acid 668 of 882 (UniProt.org). Due to the loss of most the cytoplasmic domain (UniProt.org), K668* is predicted to lead to a loss of Cdh1 protein function.
K738R missense unknown CDH1 K738R lies within the cytoplasmic domain of the Cdh1 protein (UniProt.org). K738R has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
L175P missense unknown CDH1 L175P lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). L175P has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
L214P missense loss of function CDH1 L214P lies within the Cadherin-1 domain of the Cdh1 protein (UniProt.org). L214P confers a loss of function to the Cdh1 protein as demonstrated by reduced interaction with Egfr, increased Egfr signaling, increased p38 Mapk signaling, and increased cell motility in culture (PMID: 19268661).
L214R missense unknown CDH1 L214R lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). L214R has been identified in the scientific literature (PMID: 27891760), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
L249V missense unknown CDH1 L249V lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). L249V has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
L452P missense unknown CDH1 L452P lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). L452P has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
L583R missense loss of function 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).
L71F missense unknown CDH1 L71F lies within the propeptide region of the Cdh1 protein (UniProt.org). L71F has been identified in sequencing studies (PMID: 25148578), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
L728* nonsense loss of function - predicted CDH1 L728* results in a premature truncation of the Cdh1 protein at amino acid 728 of 882 (UniProt.org). Due to the loss of the catenin-binding region (UniProt.org), L728* is predicted to lead to a loss of Cdh1 protein function.
L731F missense unknown CDH1 L731F lies within the cytoplasmic domain of the Cdh1 protein (UniProt.org). L731F has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
L731Ffs*39 frameshift loss of function - predicted CDH1 L731Ffs*39 indicates a shift in the reading frame starting at amino acid 731 and terminating 39 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). Due to the loss of the catenin-binding region (UniProt.org), L731Ffs*39 is predicted to lead to a loss of Cdh1 protein function.
L776M missense unknown CDH1 L776M lies within the cytoplasmic domain of the Cdh1 protein (UniProt.org). L776M has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
L798V missense unknown CDH1 L798V lies within the cytoplasmic domain of the Cdh1 protein (UniProt.org). L798V has been identified in sequencing studies (PMID: 29617666), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
L845V missense unknown CDH1 L845V lies within the region of the Cdh1 protein required for binding catenins (UniProt.org). L845V has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
loss unknown loss of function CDH1 loss indicates loss of the CDH1 gene, mRNA, and protein.
M282I missense unknown CDH1 M282I lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). M282I has been identified in the scientific literature (PMID: 11857408), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
M316V missense unknown CDH1 M316V lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). M316V has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
M656* nonsense loss of function - predicted CDH1 M656* results in a premature truncation of the Cdh1 protein at amino acid 656 of 882 (UniProt.org). Due to the loss of the cytoplasmic domain (UniProt.org), M656* is predicted to lead to a loss of Cdh1 protein function.
mutant unknown unknown CDH1 mutant indicates an unspecified mutation in the CDH1 gene.
N256I missense unknown CDH1 N256I lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). N256I has been identified in the scientific literature (PMID: 22610119), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
N294Kfs*6 frameshift loss of function - predicted CDH1 N294Kfs*6 indicates a shift in the reading frame starting at amino acid 294 and terminating 6 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), N294Kfs*6 is predicted to lead to a loss of Cdh1 protein function.
N315S missense unknown CDH1 N315S lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). N315S has been identified in the scientific literature (PMID: 7961105), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
N387H missense unknown CDH1 N387H lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). N387H has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
N405S missense unknown CDH1 N405S lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). N405S has been identified in sequencing studies (PMID: 22911296), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
N458I missense unknown CDH1 N458I lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). N458I has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
N606I missense unknown CDH1 N606I lies within the Cadherin domain 5 of the Cdh1 protein (UniProt.org). N606I has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
N666S missense unknown CDH1 N666S lies within the Cadherin domain 5 of the Cdh1 protein (UniProt.org). N666S has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
N674K missense unknown CDH1 N674K lies within the Cadherin domain 5 of the Cdh1 protein (UniProt.org). N674K has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
N674Y missense unknown CDH1 N674Y lies within the Cadherin domain 5 of the Cdh1 protein (UniProt.org). N674Y has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
N867S missense unknown CDH1 N867S lies within the region of the Cdh1 protein required for binding catenins (UniProt.org). N867S has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
over exp none no effect CDH1 over exp indicates an over expression of the Cdh1 protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
P125L missense unknown CDH1 P125L lies within the propeptide region of the Cdh1 protein (UniProt.org). P125L has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
P159L missense unknown CDH1 P159L lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). P159L has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
P159Lfs*56 frameshift loss of function - predicted CDH1 P159Lfs*56 indicates a shift in the reading frame starting at amino acid 159 and terminating 56 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), P159Lfs*56 is predicted to lead to a loss of Cdh1 protein function.
P160Rfs*8 frameshift loss of function - predicted CDH1 P160Rfs*8 indicates a shift in the reading frame starting at amino acid 160 and terminating 8 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), P160Rfs*8 is predicted to lead to a loss of Cdh1 protein function.
P201A missense unknown CDH1 P201A lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). P201A has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
P201S missense unknown CDH1 P201S lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). P201S has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
P260H missense unknown CDH1 P260H lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). P260H has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
P277S missense unknown CDH1 P277S lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). P277S has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
P30T missense unknown CDH1 P30T lies within the propeptide region of the Cdh1 protein (UniProt.org). P30T has been identified in the scientific literature (PMID: 22470475), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
P373L missense loss of function CDH1 P373L lies within the Cadherin-2 domain of the Cdh1 protein (UniProt.org). P373L confers a loss of function to the Cdh1 protein as demonstrated by reduced interaction with Egfr, increased Egfr signaling, increased p38 Mapk signaling, and increased cell motility in culture (PMID: 19268661).
P373R missense unknown CDH1 P373R lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). P373R has been identified in sequencing studies (PMID: 24185509), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
P429L missense unknown CDH1 P429L lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). P429L has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
P537L missense unknown CDH1 P537L lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). P537L has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
P593S missense unknown CDH1 P593S lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). P593S has been identified in sequencing studies (PMID: 24816255), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
P607S missense unknown CDH1 P607S lies within the Cadherin domain 5 of the Cdh1 protein (UniProt.org). P607S has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
P744S missense unknown CDH1 P744S lies within the cytoplasmic domain of the Cdh1 protein (UniProt.org). P744S has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
P799R missense loss of function CDH1 P799R lies within the cytoplasmic domain of the Cdh1 protein (UniProt.org). P799R results in aberrant subcellular localization, decreased interaction with Pipki gamma, and an invasive phenotype in culture (PMID: 22850631).
P825L missense unknown CDH1 P825L lies within the region of the Cdh1 protein required for binding catenins (UniProt.org). P825L has been identified in sequencing studies (PMID: 25067988), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
Q129* nonsense loss of function - predicted CDH1 Q129* results in a premature truncation of the Cdh1 protein at amino acid 129 of 882 (UniProt.org). Q129* is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and possible increased cell migration (PMID: 26901067).
Q195* nonsense loss of function - predicted CDH1 Q195* results in a premature truncation of the Cdh1 protein at amino acid 195 of 882 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Q195* is predicted to lead to a loss of Cdh1 protein function.
Q195K missense unknown CDH1 Q195K lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). Q195K has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
Q23* nonsense loss of function - predicted CDH1 Q23* results in a premature truncation of the Cdh1 protein at amino acid 23 of 882 (UniProt.org). Q23* is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and possible increased cell migration (PMID: 26901067).
Q255* nonsense loss of function - predicted CDH1 Q255* results in a premature truncation of the Cdh1 protein at amino acid 255 of 882 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Q255* is predicted to lead to a loss of Cdh1 protein function.
Q307* nonsense loss of function - predicted CDH1 Q307* results in a premature truncation of the Cdh1 protein at amino acid 307 of 882 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Q307* is predicted to lead to a loss of Cdh1 protein function.
Q346* nonsense loss of function - predicted CDH1 Q346* results in a premature truncation of the Cdh1 protein at amino acid 346 of 882 (UniProt.org). Q346* is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and possible increased cell migration (PMID: 26901067).
Q351* nonsense loss of function - predicted CDH1 Q351* results in a premature truncation of the Cdh1 protein at amino acid 351 of 882 (UniProt.org). Q351* is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and possible increased cell migration (PMID: 26901067).
Q383* nonsense loss of function - predicted CDH1 Q383* results in a premature truncation of the Cdh1 protein at amino acid 383 of 882 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Q383* is predicted to lead to a loss of Cdh1 protein function.
Q448* nonsense loss of function - predicted CDH1 Q448* results in a premature truncation of the Cdh1 protein at amino acid 448 of 882 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Q448* is predicted to lead to a loss of Cdh1 protein function.
Q503* nonsense loss of function - predicted CDH1 Q503* results in a premature truncation of the Cdh1 protein at amino acid 503 of 882 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Q503* is predicted to lead to a loss of Cdh1 protein function.
Q511* nonsense loss of function - predicted CDH1 Q511* results in a premature truncation of the Cdh1 protein at amino acid 511 of 882 (UniProt.org). Due to the loss of the cytoplasmic domain (UniProt.org), Q511* is predicted to lead to a loss of Cdh1 protein function.
Q610L missense unknown CDH1 Q610L lies within the Cadherin domain 5 of the Cdh1 protein (UniProt.org). Q610L has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
Q641* nonsense loss of function - predicted CDH1 Q641* results in a premature truncation of the Cdh1 protein at amino acid 641 of 882 (UniProt.org). Due to the loss of the cytoplasmic domain (UniProt.org), Q641* is predicted to lead to a loss of Cdh1 protein function.
Q647* nonsense loss of function - predicted CDH1 Q647* results in a premature truncation of the Cdh1 protein at amino acid 647 of 882 (UniProt.org). E647* is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and possible increased cell migration (PMID: 26901067).
Q677* nonsense loss of function - predicted CDH1 E677* results in a premature truncation of the Cdh1 protein at amino acid 677 of 882 (UniProt.org). E677* is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and possible increased cell migration (PMID: 26901067).
R222G missense unknown CDH1 R222G lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). R222G has been identified in sequencing studies (PMID: 30239046), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
R222I missense unknown CDH1 R222I lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). R222I has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
R224C missense unknown CDH1 R224C lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). R224C has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
R224H missense unknown CDH1 R224H lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). R224H has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
R335* nonsense loss of function - predicted CDH1 R335* results in a premature truncation of the Cdh1 protein at amino acid 335 of 882 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R335* is predicted to lead to a loss of Cdh1 protein function.
R492I missense unknown CDH1 R492I lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). R492I has been identified in sequencing studies (PMID: 22722201), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
R598* nonsense loss of function - predicted CDH1 R598* results in a premature truncation of the Cdh1 protein at amino acid 598 of 882 (UniProt.org). R598** is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and possible increased cell migration (PMID: 26901067).
R63* nonsense loss of function - predicted CDH1 R63* results in a premature truncation of the Cdh1 protein at amino acid 63 of 882 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R63* is predicted to lead to a loss of Cdh1 function.
R63G missense unknown CDH1 R63G lies within the propeptide region of the Cdh1 protein (UniProt.org). R63G has been identified in sequencing studies (PMID: 22722829), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
R65I missense unknown CDH1 R65I lies within the propeptide region of the Cdh1 protein (UniProt.org). R65I has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
R732Q missense loss of function 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).
R74* nonsense loss of function - predicted CDH1 R74* results in a premature truncation of the Cdh1 protein at amino acid 74 of 882 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R74* is predicted to lead to a loss of Cdh1 protein function.
R749W missense loss of function 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).
R868C missense unknown CDH1 R868C lies within the region of the Cdh1 protein required for binding catenins (UniProt.org). R868C has been identified in sequencing studies (PMID: 27124486), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
R90Q missense unknown CDH1 R90Q lies within the propeptide region of the Cdh1 protein (UniProt.org). R90Q has been identified in the scientific literature (PMID: 28229982), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
R90W missense unknown CDH1 R90W lies within the propeptide region of the Cdh1 protein (UniProt.org). R90W has been identified in sequencing studies (PMID: 30239046), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
S133F missense unknown CDH1 S133F lies within the propeptide region of the Cdh1 protein (UniProt.org). S133F has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
S191N missense unknown CDH1 S191N lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). S191N has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
S232C missense no effect - predicted CDH1 S232C lies within the extracellular Cadherin 1 domain of the Cdh1 protein (UniProt.org). S232C demonstrates normal adhesion function in cell assays, in agreement with predictive modeling (PMID: 22470475).
S36Afs*20 frameshift loss of function - predicted CDH1 S36Afs*20 indicates a shift in the reading frame starting at amino acid 36 and terminating 20 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), S36Afs*20 is predicted to lead to a loss of Cdh1 protein function.
S469Y missense unknown CDH1 S469Y lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). S469Y has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
S559N missense unknown CDH1 S559N lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). S559N has been identified in the scientific literature (PMID: 15696125, PMID: 30895400), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
S70Pfs*13 frameshift loss of function - predicted CDH1 S70Pfs*13 indicates a shift in the reading frame starting at amino acid 70 and terminating 13 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). S70Pfs*13 is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and possible increased cell migration (PMID: 26901067).
S9* nonsense loss of function - predicted CDH1 S9* results in a premature truncation of the Cdh1 protein at amino acid 9 of 882 (UniProt.org). S9* is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and possible increased cell migration (PMID: 26901067).
T118R missense loss of function CDH1 T118R lies within the propeptide region of the Cdh1 protein (UniProt.org). T118R results in reduced affinity of Cdh1 to Egfr and increased Egfr activation, as well as increased phosphorylation of p38 Mapk and Src in cell culture (PMID: 19268661).
T251K missense unknown CDH1 T251K lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). T251K has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
T340A missense loss of function CDH1 T340A lies within the Cadherin domain 2 of the Chd1 protein (UniProt.org). T340A confers a loss of function to the Cdh1 protein as demonstrated by increased Egfr signaling, increased p38 Mapk signaling, and increased in cell motility in culture (PMID: 19268661).
T340M missense unknown CDH1 T340M lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). T340M has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
T366Rfs*5 frameshift loss of function - predicted CDH1 T366Rfs*5 indicates a shift in the reading frame starting at amino acid 366 and terminating 5 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). T366Rfs*5 is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and increased cell migration (PMID: 26901067).
T399_D400del deletion unknown CDH1 T399_D400del results in the deletion of two amino acids in the Cadherin domain 3 of the Cdh1 protein (UniProt.org). T399_D400del has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
T522I missense unknown CDH1 T522I lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). T522I has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
T560R missense loss of function 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).
V188D missense unknown CDH1 V188D lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). V188D has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
V365I missense unknown CDH1 V365I lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). V365I has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
V365Tfs*26 frameshift loss of function - predicted CDH1 V365Tfs*26 indicates a shift in the reading frame starting at amino acid 365 and terminating 26 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), V365Tfs*26 is predicted to lead to a loss of Cdh1 protein function.
V454E missense unknown CDH1 V454E lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). V454E has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
V460L missense unknown CDH1 V460L lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). V460L has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
V475A missense unknown CDH1 V475A lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). V475A has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
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.
V694I missense unknown CDH1 V694I lies within the Cadherin domain 5 of the Cdh1 protein (UniProt.org). V694I has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
V737D missense unknown CDH1 V737D lies within the cytoplasmic domain of the Cdh1 protein (UniProt.org). V737D has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
V832M missense loss of function CDH1 V832M lies within the region of the Cdh1 protein required for binding catenins (UniProt.org). V832M retains the ability to inhibit TCF-LEF activity in a reporter assay (PMID: 12944922), but results in reduced Cdh1 interaction with beta-catenin, decreased cell-cell adhesion, and increased invasion in cell culture (PMID: 22850631, PMID: 12944922).
W156* nonsense loss of function - predicted CDH1 W156* results in a premature truncation of the Cdh1 protein at amino acid 156 of 882 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), W156* is predicted to lead to a loss of Cdh1 protein function.
W156C missense unknown CDH1 W156C lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). W156C has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
W4* nonsense loss of function - predicted CDH1 W4* results in a premature truncation of the Cdh1 protein at amino acid 4 of 882 (UniProt.org). W4* is predicted to confer a loss of function to the Cdh1 protein as demonstrated by loss of Cdh1 expression and possible increased cell migration (PMID: 26901067).
W409* nonsense loss of function - predicted CDH1 W409* results in a premature truncation of the Cdh1 protein at amino acid 409 of 882 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), W409* 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.
W409L missense unknown CDH1 W409L lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). W409L has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
W409R missense loss of function CDH1 W409R lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). W409R confers a loss of function to the Cdh1 protein as indicated by reduced cell-cell adhesion and increased invasion in culture (PMID: 15235021).
W532* nonsense loss of function - predicted CDH1 W532* results in a premature truncation of the Cdh1 protein at amino acid 532 of 882 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), W532* is predicted to lead to a loss of Cdh1 protein function.
W638* nonsense loss of function - predicted CDH1 W638* results in a premature truncation of the Cdh1 protein at amino acid 638 of 882 (UniProt.org). Due to the loss of the cytoplasmic domain (UniProt.org), W638* is predicted to lead to a loss of Cdh1 protein function.
wild-type none no effect Wild-type CDH1 indicates that no mutation has been detected within the CDH1 gene.
Y101C missense unknown CDH1 Y101C lies within the propeptide region of the Cdh1 protein (UniProt.org). Y101C has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
Y190C missense unknown CDH1 Y190C lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). Y190C has been identified in sequencing studies (PMID: 26489445), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
Y190H missense unknown CDH1 Y190H lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). Y190H has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
Y302N missense unknown CDH1 Y302N lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). Y302N has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).
Y523* nonsense loss of function - predicted CDH1 Y523* results in a premature truncation of the Cdh1 protein at amino acid 523 of 882 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Y523* is predicted to lead to a loss of Cdh1 protein function.
Y754Afs*5 frameshift loss of function - predicted CDH1 Y754Afs*5 indicates a shift in the reading frame starting at amino acid 754 and terminating 5 residues downstream causing a premature truncation of the 882 amino acid Cdh1 protein (UniProt.org). Due to the loss of the majority of the catenin-binding region (UniProt.org), Y754Afs*5 is predicted to lead to a loss of Cdh1 protein function.
Y835* nonsense unknown CDH1 Y835* results in a premature truncation of the Cdh1 protein at amino acid 835 of 882 (UniProt.org). Y835* has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, May 2020).