Gene Detail

Gene Symbol CDH1
Synonyms Arc-1 | BCDS1 | CD324 | CDHE | ECAD | LCAM | UVO
Gene Description CDH1, cadherin 1, type 1, encodes E-Cadherin and is 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 and somatic mutations are found in gastric, breast, colon, and NSCLC cancers (PMID: 27283171, PMID: 25184143).
Entrez Id 999
Chromosome 16
Map Location 16q22.1
Canonical Transcript NM_004360

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
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).
V188D missense unknown CDH1 V188D lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). V188D has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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).
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, Sep 2018).
D858E missense unknown CDH1 D858E lies within the catenin-binding region of the Cdh1 protein (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, Sep 2018).
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.
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, Sep 2018).
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, Aug 2018).
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.
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, Sep 2018).
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).
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, Sep 2018).
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, Sep 2018).
R224H missense unknown CDH1 R224H lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). R224H has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
P537L missense unknown CDH1 P537L lies within the Cadherin 4 domain of the Cdh1 protein (UniProt.org). P537L has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
D587H missense unknown CDH1 D587H lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). D587H has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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, Sep 2018).
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.
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, Sep 2018).
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.
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).
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).
D549Y missense unknown CDH1 D549Y lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). D549Y has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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.
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, Aug 2018).
D400V missense unknown CDH1 D400V lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). D400V has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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.
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.
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, Sep 2018).
R65I missense unknown CDH1 R65I lies within the extracellular domain of the Cdh1 protein (UniProt.org). R65I has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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.
L731F missense unknown CDH1 L731F lies within the catenin-binding region of the Cdh1 protein (UniProt.org). L731F has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
K113E missense unknown CDH1 K113E lies within the extracellular domain of the Cdh1 protein (UniProt.org). K113E has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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.
S133F missense unknown CDH1 S133F lies within the extracellular domain 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, Sep 2018).
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.
R492I missense unknown CDH1 R492I lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). R492I has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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).
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, Sep 2018).
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, Sep 2018).
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.
R222G missense unknown CDH1 R222G lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). R222G has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
A817V missense unknown CDH1 A817V lies within the catenin-binding region of the Cdh1 protein (UniProt.org). A817V has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Aug 2018).
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, Sep 2018).
A824V missense unknown CDH1 A824V lies within the catenin-binding region of the Cdh1 protein (UniProt.org). A824V has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Aug 2018).
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, Sep 2018).
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, Sep 2018).
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).
L776M missense unknown CDH1 L776M lies within the catenin-binding region 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, Sep 2018).
G239W missense unknown CDH1 G239W lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). G239W has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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.
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, Aug 2018).
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, Sep 2018).
P30T missense unknown CDH1 P30T does not lie within any known functional domains 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, Sep 2018).
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, Sep 2018).
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, Aug 2018).
loss unknown loss of function CDH1 loss indicates loss of the CDH1 gene, mRNA, and protei
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, Sep 2018).
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, Sep 2018).
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).
T340M missense unknown CDH1 T340M lies within the Cadherin 2 domain of the Cdh1 protein (UniProt.org). T340M has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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, Aug 2018).
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, Sep 2018).
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, Sep 2018).
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, Aug 2018).
E494* missense 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.
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, Sep 2018).
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, Sep 2018).
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.
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, Sep 2018).
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, Sep 2018).
R224C missense unknown CDH1 R224C lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). R224C has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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).
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, Sep 2018).
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, Sep 2018).
F98L missense unknown CDH1 F98L lies within the extracellular domain 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, Sep 2018).
E58Q missense unknown CDH1 E58Q lies within the extracellular domain 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, Sep 2018).
R90Q missense unknown CDH1 R90Q lies within the extracellular domain 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, Sep 2018).
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.
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, Sep 2018).
G278* missense 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.
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, Sep 2018).
Y101C missense unknown CDH1 Y101C lies within the extracellular domain 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, Sep 2018).
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, Sep 2018).
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, Aug 2018).
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, Sep 2018).
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).
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, Sep 2018).
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, Sep 2018).
E445Q missense unknown CDH1 E445Q lies within the Cadherin domain 2 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, Sep 2018).
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, Sep 2018).
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, Sep 2018).
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, Sep 2018).
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, Sep 2018).
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).
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, Sep 2018).
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.
D257V missense unknown CDH1 D257V lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). D257V has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Aug 2018).
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).
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.
T560R missense unknown CDH1 T560R lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). T560R has not been biochemically characterized, but has been shown to result in alternative splicing due to the creation of a novel splicing site (PMID: 27880784).
E336K missense unknown CDH1 E336K lies within the Cadherin 2 domain 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, Sep 2018).
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, Sep 2018).
L798V missense unknown CDH1 L798V lies within the catenin-binding region of the Cdh1 protein (UniProt.org). L798V has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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).
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.
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.
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).
D288V missense unknown CDH1 D288V lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). D288V has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Aug 2018).
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).
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, Sep 2018).
T399_D400del deletion unknown CDH1 T399_D400del results in the deletion of two amino acids in the Cadherin 3 domain 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, Sep 2018).
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, Aug 2018).
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.
P593S missense unknown CDH1 P593S lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). P593S has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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).
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, Sep 2018).
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, Sep 2018).
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).
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.
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.
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, Sep 2018).
mutant unknown unknown CDH1 mutant indicates an unspecified mutation in the CDH1 gene.
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.
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).
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, Sep 2018).
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, Sep 2018).
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), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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, Sep 2018).
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).
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).
M316V missense unknown CDH1 M316V lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). M316V has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
E841K missense unknown CDH1 E841K lies within the catenin-binding region of the Cdh1 protein (UniProt.org). E841K has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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.
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.
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).
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, Sep 2018).
D587Y missense unknown CDH1 D587Y lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). D587Y has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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).
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.
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, Aug 2018).
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, Sep 2018).
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, Aug 2018).
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.
R868C missense unknown CDH1 R868C lies within the catenin-binding region of the Cdh1 protein (UniProt.org). R868C has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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, Sep 2018).
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).
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, Sep 2018).
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, Sep 2018).
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).
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).
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, Aug 2018).
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.
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.
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), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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, Sep 2018).
E490K missense unknown CDH1 E490K lies within the Cadherin domain 4 of the Cdh1 protein (UniProt.org). E490K has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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.
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).
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.
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, Aug 2018).
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, Sep 2018).
R63G missense unknown CDH1 R63G lies within the extracellular domain 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, Sep 2018).
A102T missense unknown CDH1 A102T lies within the extracellular domain 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, Aug 2018).
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, Sep 2018).
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, Sep 2018).
S191N missense unknown CDH1 S191N lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). S191N has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
P825L missense unknown CDH1 P825L lies within the catenin-binding region of the Cdh1 protein (UniProt.org). P825L has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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.
D290G missense unknown CDH1 D290G lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). D290G has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Aug 2018).
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, Sep 2018).
V365I missense unknown CDH1 V365I lies within the Cadherin domain 2 of the Cdh1 protein (UniProt.org). V365I has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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, Aug 2018).
D402H missense unknown CDH1 D402H lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). D402H has been identified in sequencing studies (PMID: 28270497), but has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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, Sep 2018).
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.
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.
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, Aug 2018).
R90W missense unknown CDH1 R90W lies within the catenin-binding region of the Cdh1 protein (UniProt.org). R90W has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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, Sep 2018).
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, Sep 2018).
F205S missense unknown CDH1 F205S lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). F205S has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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, Aug 2018).
A634V missense unknown CDH1 A634V lies within the Cadherin domain 5 of the Cdh1 protein (UniProt.org). A634V has been identified in the scientific literature (PMID: 17545690, PMID: 16801346), but has not been biochemically characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, Aug 2018).
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, Sep 2018).
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, Sep 2018).
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, Sep 2018).
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.
V737D missense unknown CDH1 V737D lies within the catenin-binding region 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, Sep 2018).
P125L missense unknown CDH1 P125L lies within the extracellular domain 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, Sep 2018).
D402V missense unknown CDH1 D402V lies within the Cadherin 3 domain 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, Sep 2018).
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).
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, Sep 2018).
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, Sep 2018).
G212E missense unknown CDH1 G212E lies within the Cadherin domain 1 of the Cdh1 protein (UniProt.org). G212E has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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.
L845V missense unknown CDH1 L845V lies within the catenin-binding region of the Cdh1 protein (UniProt.org). L845V has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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, Sep 2018).
L71F missense unknown CDH1 L71F lies within the extracellular domain of the Cdh1 protein (UniProt.org). L71F has not been characterized and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
wild-type none no effect Wild-type CDH1 indicates that no mutation has been detected within the CDH1 gene.
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.
H92D missense unknown CDH1 H92D lies within the extracellular domain 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, Sep 2018).
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, Sep 2018).
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.
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).
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).
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, Sep 2018).
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, Sep 2018).
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).
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, Sep 2018).
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, Sep 2018).
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.
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).
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.
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.
N867S missense unknown CDH1 N867S lies within the catenin-binding region of the Cdh1 protein (UniProt.org). N867S has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
N458I missense unknown CDH1 N458I lies within the Cadherin domain 3 of the Cdh1 protein (UniProt.org). N458I has not been characterized in the scientific literature and therefore, its effect on Cdh1 protein function is unknown (PubMed, Sep 2018).
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.
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, Sep 2018).
Molecular Profile Protein Effect Treatment Approaches
CDH1 T366Rfs*5 loss of function - predicted
CDH1 V188D unknown
CDH1 E757K loss of function
CDH1 W156C unknown
CDH1 D858E unknown
CDH1 G169Rfs*5 loss of function - predicted
CDH1 G278V unknown
CDH1 A592T unknown
CDH1 L728* loss of function - predicted
CDH1 E243Q unknown
CDH1 S70Pfs*13 loss of function - predicted
CDH1 D549H unknown
CDH1 P159L unknown
CDH1 R224H unknown
CDH1 P537L unknown
CDH1 D587H unknown
CDH1 I248F unknown
CDH1 R335* loss of function - predicted
CDH1 R222I unknown
CDH1 R74* loss of function - predicted
CDH1 W4* loss of function - predicted
CDH1 Q129* loss of function - predicted
CDH1 D549Y unknown
CDH1 Q641* loss of function - predicted
CDH1 D257G unknown
CDH1 D400V unknown
CDH1 Y523* loss of function - predicted
CDH1 Q503* loss of function - predicted
CDH1 D433N unknown
CDH1 R65I unknown
CDH1 K668* loss of function - predicted
CDH1 L731F unknown
CDH1 K113E unknown
CDH1 V365Tfs*26 loss of function - predicted
CDH1 S133F unknown
CDH1 Q255* loss of function - predicted
CDH1 R492I unknown
CDH1 F462Hfs*16 loss of function - predicted
CDH1 G693D unknown
CDH1 D313N unknown
CDH1 W409fs loss of function - predicted
CDH1 R222G unknown
CDH1 A817V unknown
CDH1 L214R unknown
CDH1 A824V unknown
CDH1 W409L unknown
CDH1 K440N unknown
CDH1 E648* loss of function - predicted
CDH1 L776M unknown
CDH1 G239W unknown
CDH1 N294Kfs*6 loss of function - predicted
CDH1 A691T unknown
CDH1 M282I unknown
CDH1 P30T unknown
CDH1 D644N unknown
CDH1 D221H unknown
CDH1 loss loss of function
CDH1 N405S unknown
CDH1 N666S unknown
CDH1 R749W loss of function
CDH1 T340M unknown
CDH1 A735V unknown
CDH1 K738R unknown
CDH1 L175P unknown
CDH1 A709V unknown
CDH1 E494* loss of function - predicted
CDH1 G278R unknown
CDH1 I192N unknown
CDH1 V660fs loss of function - predicted
CDH1 L452P unknown
CDH1 P744S unknown
CDH1 R224C unknown
CDH1 E58* loss of function - predicted
CDH1 V694I unknown
CDH1 P201A unknown
CDH1 F98L unknown
CDH1 E58Q unknown
CDH1 R90Q unknown
CDH1 D805* loss of function - predicted
CDH1 E261K unknown
CDH1 G278* loss of function - predicted
CDH1 E852Vfs*8 unknown
CDH1 Y101C unknown
CDH1 E445A unknown
CDH1 D291N unknown
CDH1 N315S unknown
CDH1 S9* loss of function - predicted
CDH1 T118R loss of function
CDH1 P260H unknown
CDH1 Q610L unknown
CDH1 E445Q unknown
CDH1 E497K unknown
CDH1 K557N unknown
CDH1 Y835* unknown
CDH1 L249V unknown
CDH1 E247* loss of function - predicted
CDH1 Y190C unknown
CDH1 D291Mfs*3 loss of function - predicted
CDH1 D257V unknown
CDH1 C163Afs*52 loss of function - predicted
CDH1 Q383* loss of function - predicted
CDH1 T560R unknown
CDH1 E336K unknown
CDH1 V454E unknown
CDH1 L798V unknown
CDH1 Q23* loss of function - predicted
CDH1 A824Gfs*5 loss of function - predicted
CDH1 W532* loss of function - predicted
CDH1 A298T loss of function
CDH1 D288V unknown
CDH1 P373L loss of function
CDH1 E165Q unknown
CDH1 T399_D400del unknown
CDH1 D254Y unknown
CDH1 Y754Afs*5 loss of function - predicted
CDH1 P593S unknown
CDH1 F730Vfs*18 loss of function - predicted
CDH1 N256I unknown
CDH1 N387H unknown
CDH1 Q647* loss of function - predicted
CDH1 W638* loss of function - predicted
CDH1 inact mut loss of function
CDH1 E386K unknown
CDH1 mutant unknown
CDH1 E243* loss of function - predicted
CDH1 E185V no effect
CDH1 P373R unknown
CDH1 T251K unknown
CDH1 E243K unknown
CDH1 F601L unknown
CDH1 Q346* loss of function - predicted
CDH1 S232C no effect - predicted
CDH1 M316V unknown
CDH1 E841K unknown
CDH1 D764Gfs*5 loss of function - predicted
CDH1 over exp no effect
CDH1 R598* loss of function - predicted
CDH1 N674Y unknown
CDH1 D587Y unknown
CDH1 E806* loss of function - predicted
CDH1 G759Efs*11 loss of function - predicted
CDH1 D288N unknown
CDH1 D400A unknown
CDH1 D254N unknown
CDH1 E512* loss of function - predicted
CDH1 R868C unknown
CDH1 S469Y unknown
CDH1 Q351* loss of function - predicted
CDH1 P277S unknown
CDH1 I600T unknown
CDH1 R732Q loss of function
CDH1 Q677* loss of function - predicted
CDH1 A299S unknown
CDH1 H128Ifs*87 loss of function - predicted
CDH1 F499Lfs*38 loss of function - predicted
CDH1 S559N unknown
CDH1 Y190H unknown
CDH1 E490K unknown
CDH1 E463* loss of function - predicted
CDH1 L583R loss of function
CDH1 W409* loss of function - predicted
CDH1 A719V unknown
CDH1 E551K unknown
CDH1 R63G unknown
CDH1 A102T unknown
CDH1 D370N unknown
CDH1 D400del unknown
CDH1 S191N unknown
CDH1 P825L unknown
CDH1 P160Rfs*8 loss of function - predicted
CDH1 D290G unknown
CDH1 D418N unknown
CDH1 V365I unknown
CDH1 D257N unknown
CDH1 D402H unknown
CDH1 Y302N unknown
CDH1 I505Sfs*17 loss of function - predicted
CDH1 Q195* loss of function - predicted
CDH1 A692T unknown
CDH1 R90W unknown
CDH1 Q195K unknown
CDH1 D402N unknown
CDH1 F205S unknown
CDH1 A403T unknown
CDH1 A634V unknown
CDH1 D552N unknown
CDH1 N606I unknown
CDH1 E247K unknown
CDH1 Q511* loss of function - predicted
CDH1 V737D unknown
CDH1 P125L unknown
CDH1 D402V unknown
CDH1 G239R loss of function
CDH1 P607S unknown
CDH1 V460L unknown
CDH1 G212E unknown
CDH1 K447* loss of function - predicted
CDH1 L845V unknown
CDH1 P201S unknown
CDH1 L71F unknown
CDH1 wild-type no effect
CDH1 S36Afs*20 loss of function - predicted
CDH1 H92D unknown
CDH1 P429L unknown
CDH1 M656* loss of function - predicted
CDH1 T340A loss of function
CDH1 L214P loss of function
CDH1 T522I unknown
CDH1 F317S unknown
CDH1 E35* loss of function - predicted
CDH1 N674K unknown
CDH1 E273K unknown
CDH1 P159Lfs*56 loss of function - predicted
CDH1 W409R loss of function
CDH1 L731Ffs*39 loss of function - predicted
CDH1 Q448* loss of function - predicted
CDH1 N867S unknown
CDH1 N458I unknown
CDH1 R63* loss of function - predicted
CDH1 R63* ERBB2 L869Q
CDH1 V475A unknown
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...
CDH1 over exp non-small cell lung carcinoma resistant BI2536 Preclinical Actionable In a preclinical study, non-small cell lung carcinoma cells over expressing CDH1 were resistant to BI2536 in culture (PMID: 26597303). 26597303
CDH1 over exp pancreatic ductal adenocarcinoma sensitive Erlotinib + Selumetinib Phase II Actionable In a Phase II clinical trial, patients with pancreatic ductal adenocarcinoma tumors expressing high levels of Cdh1 were more likely to respond to a combination therapy of Tarceva (erlotinib) and Selumetinib (AZD6244) (PMID: 26251290). 26251290
CDH1 over exp non-small cell lung carcinoma resistant Volasertib Preclinical Actionable In a preclinical study, non-small cell lung carcinoma cells over expressing CDH1 were resistant to volasertib in culture (PMID: 26597303). 26597303
CDH1 R63* ERBB2 L869Q breast cancer sensitive Lapatinib + Capecitabine Clinical Study Actionable In a clinical case study, treatment with the combination of Tykerb (lapatinib) and Xeloda (capecitabine) resulted in prolonged response and reduction in liver metastasis in a metastatic breast cancer patient harboring ERBB2 L869Q and CDH1 R63* mutations (PMID: 26487584). 26487584