Gene Detail

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Gene Symbol CTNNB1
Synonyms armadillo | CTNNB | EVR7 | MRD19 | NEDSDV
Gene Description CTNNB1, catenin beta 1, is a member of the Wnt signaling pathway, component of cadherin-based adherens junctions, and is also a tumor antigen recognized by T-cells in melanoma (PMID: 29403496). CTNNB1 imbalance is implicated in cancer progression and metastasis (PMID: 22617422) and exon 3 mutations are common in endometrioid endometrial carcinoma and melanoma (PMID: 29435196).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
act mut unknown gain of function CTNNB1 act mut indicates that this variant results in a gain of function in the Ctnnb1 protein. However, the specific amino acid change has not been identified.
inact mut unknown loss of function CTNNB1 inact mut indicates that this variant results in a loss of function of the Ctnnb1 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown CTNNB1 mutant indicates an unspecified mutation in the CTNNB1 gene.
A97fs frameshift loss of function - predicted CTNNB1 A97fs results in a change in the amino acid sequence of the Ctnnb1 protein beginning at aa 97 of 781, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), A97fs is predicted to lead to a loss of Ctnnb1 protein function.
G38fs frameshift loss of function - predicted CTNNB1 G38fs results in a change in the amino acid sequence of the Ctnnb1 protein beginning at aa 38 of 781, likely resulting in a truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), G38fs is predicted to lead to a loss of Ctnnb1 protein function.
L487fs frameshift loss of function - predicted CTNNB1 G487fs results in a change in the amino acid sequence of the Ctnnb1 protein beginning at aa 487 of 781, likely resulting in a truncation of the functional protein (UniProt.org). Due to the loss of multiple armadillo repeats (UniProt.org), L487fs is predicted to result in a loss of Ctnnb1 protein function.
R151fs frameshift loss of function - predicted CTNNB1 R151fs results in a change in the amino acid sequence of the Ctnnb1 protein beginning at aa 151 of 781, likely resulting in a truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R151fs is predicted to lead to a loss of Ctnnb1 protein function.
S45fs frameshift loss of function - predicted CTNNB1 S45fs results in a change in the amino acid sequence of the Ctnnb1 protein beginning at aa 45 of 781, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), S45fs is predicted to result in a loss of Ctnnb1 protein function.
T42fs frameshift loss of function - predicted CTNNB1 T42fs results in a change in the amino acid sequence of the Ctnbb1 protein beginning at aa 42 of 781, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), T42fs is predicted to confer a loss of function to the Ctnnb1 protein.
Y30fs frameshift loss of function - predicted CTNNB1 Y30fs results in a change in the amino acid sequence of the Ctnnb1 protein beginning at aa 30 of 781, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known function domains (UniProt.org), Y30fs is predicted to lead to a loss of Ctnnb1 protein function.