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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).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
1499 3 3p22.1 NM_001098210 Oncogene (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A13T missense gain of function - predicted CTNNB1 A13T lies within the VCL-interacting region of the Ctnnb1 protein (UniProt.org). A13T is predicted to confer a gain of function to Ctnnb1 as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 12067995).
A20V missense unknown CTNNB1 A20V lies within the VCL-interacting region of the Ctnnb1 protein (UniProt.org). A20V has been identified in the scientific literature (PMID: 10213482, PMID: 33535453, PMID: 34725446), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
A21T missense gain of function - predicted CTNNB1 A21T lies within the VCL-interacting region of the Ctnnb1 protein (UniProt.org). A21T is predicted to confer a gain of function to Ctnnb1 as demonstrated by nuclear accumulation of Ctnnb1 and increased expression of downstream CCND1 (PMID: 12067995, PMID: 11592102).
A21_A149del deletion unknown CTNNB1 A21_A149del results in the deletion of 129 amino acids of the Ctnnb1 protein from amino acids 21 to 149 (UniProt.org). A21_A149del has been identified in sequencing studies (PMID: 24735922, PMID: 27939373), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Nov 2024).
A21_A152del deletion unknown CTNNB1 A21_A152del results in the deletion of 132 amino acids of the Ctnnb1 protein from amino acids 21 to 152 (UniProt.org). A21_A152del has been identified in sequencing studies (PMID: 23887712), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Nov 2024).
A39G missense gain of function - predicted CTNNB1 A39G does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). A39G is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 12067995)
A39T missense gain of function - predicted CTNNB1 A39T does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). A39T is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 12474227).
A43P missense gain of function - predicted CTNNB1 A43P does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). A43P is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 11148558).
A43T missense gain of function - predicted CTNNB1 A43T does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). A43T is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 11148558).
A43V missense unknown CTNNB1 A43V does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). A43V is not associated with nuclear accumulation of beta-catenin in patient samples (PMID: 10213482), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown.
A43_P44dup duplication unknown CTNNB1 A43_P44dup indicates the insertion of two duplicate amino acids, alanine (A)-43 through proline (P)-44, in the Ctnnb1 protein (UniProt.org). A43_P44dup has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
A5_A80del deletion unknown CTNNB1 A5_A80del results in the deletion of 76 amino acids of the Ctnnb1 protein from amino acids 5 to 80 (UniProt.org). A5_A80del has been associated with nuclear beta-catenin accumulation in patient samples (PMID: 29446530), and no nuclear beta-catenin accumulation in other patient samples (PMID: 21084400), and therefore, its effect on Ctnnb1 protein function is unknown.
A5_Q143del deletion unknown CTNNB1 A5_Q143del results in the deletion of 139 amino acids of the Ctnnb1 protein from amino acids 5 to 143, which includes complete loss of exon 3 (UniProt.org, PMID: 27177928). A5_Q143del has been identified in sequencing studies (PMID: 10698519), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Nov 2024).
A702V missense unknown CTNNB1 A702V does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). A702V has been identified in sequencing studies (PMID: 24336570), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
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.
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.
amp none no effect CTNNB1 amplification indicates an increased number of copies of the CTNNB1 gene. However, the mechanism causing the increase is unspecified.
D11V missense unknown CTNNB1 D11V lies within the VCL-interacting region of the Ctnnb1 protein (UniProt.org). D11V has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
D162E missense unknown CTNNB1 D162E lies within ARM repeat 1 of the Ctnnb1 protein (UniProt.org). D162E has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
D32A missense gain of function CTNNB1 D32A lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). D32A confers a gain of function to the Ctnnb1 protein as demonstrated by reduced ubiquitination of the Ctnnb1 protein and transformation of cells in culture (PMID: 15829978).
D32E missense gain of function CTNNB1 D32E does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). D32E results in activation of Ctnnb1, as indicated by loss of membranous Ctnnb1 expression, increased nuclear Ctnnb1 expression, and increased TCF-1 and MITF-M expression in tumor samples (PMID: 14633602, PMID: 11950921).
D32G missense gain of function CTNNB1 D32G lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). D32G confers a gain of function on the Ctnnb1 protein as demonstrated by decreased ubiquitination and increased Ctnnb1-dependent transcription (PMID: 15064718, PMID: 22298898).
D32H missense gain of function - predicted CTNNB1 D32H lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). D32H is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 17163846).
D32N missense gain of function CTNNB1 D32N lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). D32N confers a gain of function on the Ctnnb1 protein as demonstrated by a loss of ubiquitin ligase interaction leading to decreased ubiquitination and increased Ctnnb1-dependent transcription (PMID: 15064718, PMID: 11955436).
D32V missense gain of function - predicted CTNNB1 D32V lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). D32V is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 10597262, PMID: 25431235).
D32Y missense gain of function CTNNB1 D32Y lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). D32Y confers a gain of function on the Ctnnb1 protein as demonstrated by decreased ubiquitination and increased Ctnnb1-dependent transcription (PMID: 15064718, PMID: 10987273).
D32_I35delinsV indel unknown CTNNB1 D32_I35delinsV results in a deletion of four amino acids within the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 32 to 35, combined with the insertion of a valine (V) at the same site (PMID: 15064718). D32_I35delinsV has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
D32_S33del deletion unknown CTNNB1 D32_S33del results in the deletion of two amino acids of the Ctnnb1 protein from amino acids 32 to 33 (UniProt.org). D32_S33del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
D32_S37delinsA indel unknown CTNNB1 D32_S37delinsA results in a deletion of six amino acids in the Ctnnb1 protein from amino acids 32 to 37, combined with the insertion of an alanine (A) at the same site (UniProt.org). D32_S37delinsA has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
D712N missense unknown CTNNB1 D712N does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). D712N has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
dec exp none no effect CTNNB1 dec exp indicates decreased expression of the Ctnnb1 protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified.
del exon3-4 deletion unknown CTNNB1 del exon3-4 indicates the deletion of exons 3-4 of the CTNNB1 gene.
E15K missense unknown CTNNB1 E15K lies within the VCL-interacting region of the Ctnnb1 protein (UniProt.org). E15K has been identified in the scientific literature (PMID: 20717765, PMID: 31841566), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
E396D missense unknown CTNNB1 E396D does not lie within any functional domains of the Ctnnb1 protein (UniProt.org). E396D has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
E462K missense unknown CTNNB1 E462K lies within ARM repeat 8 of the Ctnnb1 protein (UniProt.org). E462K has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
E54K missense gain of function - predicted CTNNB1 E54K does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). E54K is predicted to confer a gain of function to Ctnnb1 as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 12474227).
E55K missense unknown CTNNB1 E55K does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). The functional effect of E55K is conflicting, as it has been reported to be associated both with and without nuclear accumulation of Ctnnb1 in patient samples (PMID: 10213482), and a Ctnnb1 peptide with E55K results in reduced phosphorylation by Ck1 in an in vitro assay (PMID: 12925738), and therefore, its effect on Ctnnb1 protein function is unknown.
E571* nonsense loss of function - predicted CTNNB1 E571* results in a premature truncation of the Ctnnb1 protein at amino acid 571 of 781 (UniProt.org). E571* has not been characterized however, due to the effects of other truncation mutations downstream of E571 (PMID: 27368802), is predicted to lead to a loss of Ctnnb1 protein function.
E67K missense gain of function CTNNB1 E67K does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). E67K confers a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 and association with CCND1 overexpression (PMID: 11592102).
G34* nonsense loss of function - predicted CTNNB1 G34* results in a premature truncation of the Ctnnb1 protein at amino acid 34 of 781 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), G34* is predicted to lead to a loss of Ctnnb1 protein function.
G34A missense gain of function CTNNB1 G34A lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). G34A confers a gain of function to the Ctnnb1 protein as demonstrated by reduced ubiquitination of the Ctnnb1 protein and transformation of cells in culture (PMID: 15829978).
G34E missense gain of function - predicted CTNNB1 G34E lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). G34E is predicted to confer a gain of function to the Ctnnb1 protein, as demonstrated by resistance to degradation, leading to increased pathway activation in culture (PMID: 18519687).
G34L missense unknown CTNNB1 G34L lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). G34L has been identified in the scientific literature (PMID: 27334220), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
G34R missense gain of function - predicted CTNNB1 G34R lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). G34R is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 10597262, PMID: 10671680).
G34V missense gain of function - predicted CTNNB1 G34V lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). G34V is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 9671767).
G34_S71del deletion unknown CTNNB1 G34_S71del results in the deletion of 38 amino acids of the Ctnnb1 protein from amino acids 34 to 71 (UniProt.org). G34_S71del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
G367R missense unknown CTNNB1 G367R lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). G367R has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
G38A missense unknown CTNNB1 G38A lies within the negative regulatory region of the Ctnnb1 protein (PMID: 9065402). G38A is associated with lack of Ctnnb1 expression in patient samples (PMID: 11520139), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
G38C missense unknown CTNNB1 G38C lies within the negative regulatory region of the Ctnnb1 protein (PMID: 9065402). G38C has been identified in the scientific literature (PMID: 27601661), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
G38D missense unknown CTNNB1 G38D lies within the negative regulatory region of the Ctnnb1 protein (PMID: 9065402). G38D is not associated with Ctnnb1 nuclear accumulation in patient samples (PMID: 10213482, PMID: 11559529), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown.
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.
G38P missense gain of function - predicted CTNNB1 G38P lies within the negative regulatory region of the Ctnnb1 protein (PMID: 9065402). G38P is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 17163846).
G38V missense unknown CTNNB1 G38V lies within the negative regulatory region of the Ctnnb1 protein (PMID: 9065402). G38V has been identified in sequencing studies (PMID: 29451897), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, May 2024).
G38_P44del deletion unknown CTNNB1 G38_P44del results in the deletion of seven amino acids in the negative regulatory region of the Ctnnb1 protein from amino acids 38 to 44 (PMID: 9065402). G38_P44del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
G48D missense gain of function - predicted CTNNB1 G48D does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). G48D is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 11559529).
G50D missense unknown CTNNB1 G50D does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). G50D has been identified in the scientific literature (PMID: 12824925, PMID: 9515795, PMID: 21060032), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
G69A missense unknown CTNNB1 G69A does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). G69A has been identified in sequencing studies (PMID: 25822088), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Oct 2024).
H24P missense unknown CTNNB1 H24P does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). H24P has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
H24_H36del deletion unknown CTNNB1 H24_H36del results in the deletion of 13 amino acids of the Ctnnb1 protein from amino acids 24 to 36 (UniProt.org). H24_H36del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
H24_Y142del deletion unknown CTNNB1 H24_Y142del results in the deletion of 119 amino acids of the Ctnnb1 protein from amino acids 24 to 142 (UniProt.org). H24_Y142del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
H36P missense gain of function CTNNB1 H36P does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). H36P confers a gain of function to the Ctnnb1 protein as demonstrated by stabilization of the Ctnnb1 protein, increased transcription of target genes, and nuclear accumulation of Ctnnb1 (PMID: 18282277).
H36R missense gain of function CTNNB1 H36R does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). H36R results in pH-insensitive binding to the E3 ubiquitin protein ligase, Btrc, and increased Btrc binding in the presence of unphosphorylated Ctnnb1 in an in vitro assay, and the corresponding drosophila variant (H42R) leads to tumor formation in drosophila eyes and results in increased Wnt activity in a reporter assay (PMID: 30315137).
H36Y missense gain of function - predicted CTNNB1 H36Y does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). H36Y is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 11276007, PMID: 17163846).
I140N missense unknown CTNNB1 I140N does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). I140N has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
I35del deletion unknown CTNNB1 I35del results in the deletion of an amino acid in the Ctnnb1 protein at amino acid 35 (UniProt.org). I35del has been identified in sequencing studies (PMID: 24735922), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, May 2024).
I35N missense gain of function - predicted CTNNB1 I35N lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). I35N is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear localization of Ctnnb1 in culture (PMID: 10487827).
I35S missense gain of function - predicted CTNNB1 I35S lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). I35S is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 18282277).
I35T missense gain of function - predicted CTNNB1 I35T lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). I35T is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear localization of Ctnnb1 (PMID: 15943036).
I35V missense unknown CTNNB1 I35V lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). I35V has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
I35_G38del deletion unknown CTNNB1 I35_G38del results in the deletion of four amino acids in the Ctnnb1 protein from amino acids 35 to 38 (UniProt.org). I35_G38del has been identified in sequencing studies (PMID: 35359182, PMID: 32561076, PMID: 17187432), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
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.
K292E missense unknown CTNNB1 K292E lies within ARM repeat 4 of the Ctnnb1 protein (UniProt.org). K292E has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
K292T missense unknown CTNNB1 K292T lies within ARM repeat 4 of the Ctnnb1 protein (UniProt.org). K292T has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
K335I missense gain of function CTNNB1 K335I lies within ARM repeat 5 of the Ctnnb1 protein (UniProt.org). K335I results in phosphorylation and protein stability similar to wild-type Ctnnb1 (PMID: 31857074), but is weakly activating as compared to wild-type Ctnnb1 in cultured cells (PMID: 24735922, PMID: 15579438), increases Ctnnb1 signaling activity and downstream target genes, and induces tumor growth in mouse models (PMID: 31857074).
K335T missense gain of function - predicted CTNNB1 K335T lies within ARM repeat 5 of the Ctnnb1 protein (UniProt.org). K335T results in increased Ctnnb1 activity in a reporter assay (PMID: 31857074), and therefore, is predicted to lead to a gain of Ctnnb1 protein function.
K354Q missense unknown CTNNB1 K354Q lies within ARM repeat 5 of the Ctnnb1 protein (UniProt.org). K354Q has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
K354T missense unknown CTNNB1 K354T lies within ARM repeat 5 of the Ctnnb1 protein (UniProt.org). K354T has been identified in sequencing studies (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
K49E missense unknown CTNNB1 K49E does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). K49E is associated with nuclear accumulation of Ctnnb1 in the presence of P44L in patient samples (PMID: 12474227), and is transforming in the context of K19R or K19E (PMID: 16849322), but has not been individually characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Oct 2024).
L10_N141del deletion unknown CTNNB1 L10_N141del results in the deletion of 132 amino acids in the Ctnnb1 protein from amino acids 10 to 141 (UniProt.org). L10_N141del has been identified in sequencing studies (PMID: 12297840), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
L31M missense unknown CTNNB1 L31M does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). L31M has been identified in sequencing studies (PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
L31_I35del deletion unknown CTNNB1 L31_I35del results in the deletion of five amino acids in the Ctnnb1 protein from amino acids 31 to 35 (UniProt.org). L31_I35del has been identified in the scientific literature (PMID: 31320640), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
L31_S33del deletion unknown CTNNB1 L31_S33del results in the deletion of three amino acids in the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 31 to 33 (PMID: 15064718). L31_S33del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
L405F missense unknown CTNNB1 L405F lies within ARM repeat 7 of the Ctnnb1 protein (UniProt.org). L405F has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
L487fs frameshift loss of function - predicted CTNNB1 L487fs 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 lead to a loss of Ctnnb1 protein function.
L762* nonsense loss of function - predicted CTNNB1 L762* results in a premature truncation of the Ctnnb1 protein at amino acid 762 of 781 (UniProt.org). L762* is predicted to lead to a loss of Ctnnb1 protein function as indicated by reduced transcriptional activity in culture (PMID: 27368802).
M12_D144del deletion unknown CTNNB1 M12_D144del results in the deletion of 133 amino acids in the Ctnnb1 protein from amino acids 12 to 144 (UniProt.org). M12_D144del has been identified in sequencing studies (PMID: 27939373, PMID: 24735922), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
M553V missense unknown CTNNB1 M553V lies within ARM repeat 10 of the Ctnnb1 protein (UniProt.org). M553V has been identified in sequencing studies (PMID: 22653804), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
M8_L132del deletion unknown CTNNB1 M8_L132del results in the deletion of 125 amino acids of the Ctnnb1 protein from amino acids 8 to 132 (UniProt.org). M8_L132del has been identified in sequencing studies (PMID: 24413733, PMID: 27939373, PMID: 24735922), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
mutant unknown unknown CTNNB1 mutant indicates an unspecified mutation in the CTNNB1 gene.
N287S missense unknown CTNNB1 N287S lies within ARM repeat 4 of the Ctnnb1 protein (UniProt.org). N287S has been identified in the scientific literature (PMID: 36083290, PMID: 19898734, PMID: 22006429), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
N387I missense unknown CTNNB1 N387I lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). N387I has been identified in sequencing studies (PMID: 29937994, PMID: 31560893), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
N387K missense gain of function CTNNB1 N387K lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). N387K results in phosphorylation and protein stability similar to wild-type Ctnnb1 (PMID: 31857074), but increases Ctnnb1 transcriptional activity in cell culture (PMID: 27177928), increases Ctnnb1 signaling activity and downstream target gene expression in culture, and induces tumor growth in mouse models (PMID: 31857074).
N387Y missense unknown CTNNB1 N387Y lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). N387Y has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
N415H missense unknown CTNNB1 N415H lies within ARM repeat 7 of the Ctnnb1 protein (UniProt.org). N415H has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
N772* nonsense loss of function - predicted CTNNB1 N772* results in a premature truncation of the Ctnnb1 protein at amino acid 772 of 781 (UniProt.org). N772* is predicted to lead to a loss of Ctnnb1 protein function as indicated by reduced transcriptional activity in culture (PMID: 27368802).
over exp none no effect CTNNB1 over exp indicates an over expression of the Ctnnb1 protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
P16S missense unknown CTNNB1 P16S lies within the VCL-interacting region of the the Ctnnb1 protein (UniProt.org). P16S has been identified in the scientific literature (PMID: 25393105, PMID: 25148578, PMID: 27146902), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
P16_K133del deletion unknown CTNNB1 P16_K133del results in the deletion of 118 amino acids in the Ctnnb1 protein from amino acids 16 to 133 (UniProt.org). P16_K133del has been identified in sequencing studies (PMID: 10487827), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
P44A missense gain of function - predicted CTNNB1 P44A does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). P44A is predicted to confer a gain of function to the Ctnnb1 protein, as demonstrated by increased Ctnnb1-dependent transcription in a reporter assay (PMID: 18282277).
P44H missense unknown CTNNB1 P44H does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). P44H has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
P44L missense gain of function CTNNB1 P44L does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). P44L confers a gain of function to Ctnnb1 as it results in decreased serine phosphorylation of Ctnnb1 in cell culture and increased transcriptional activity in a reporter assay compared to wild-type Ctnnb1 (PMID: 31970420).
P44S missense gain of function - predicted CTNNB1 P44S does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). P44S is predicted to confer a gain of function to the Ctnnb1 protein as demosntrated by reduced phosphorylation of a Ctnnb1 peptide in an in vitro assay (PMID: 12925738).
P44_S45del deletion gain of function - predicted CTNNB1 P44_S45del results in the deletion of two amino acids of the Ctnnb1 protein from amino acids 44 to 45 (UniProt.org). P44_S45del is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 19863445).
P44_S60del deletion unknown CTNNB1 P44_S60del results in the deletion of 17 amino acids of the Ctnnb1 protein from amino acids 44 to 60 (UniProt.org). P44_S60del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
P52H missense unknown CTNNB1 P52H does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). P52H has been identified in the scientific literature (PMID: 37593116), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
Q193* nonsense loss of function - predicted CTNNB1 Q193* results in a premature truncation of the Ctnnb1 protein at amino acid 193 of 781 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Q193* is predicted to lead to a loss of Ctnnb1 protein function.
Q26_D32delinsH indel unknown CTNNB1 Q26_D32delinsH results in the deletion of seven amino acids within the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 26 to 32, combined with the insertion of a histidine (H) at the same site (PMID: 15064718). Q26_D32delinsH has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
Q28_D32delinsH indel unknown CTNNB1 Q28_D32delinsH results in a deletion of five amino acids within the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 28 to 32, combined with the insertion of a histidine (H) at the same site (PMID: 15064718). Q28_D32delinsH has been identified in sequencing studies (PMID: 26822237), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
Q302H missense unknown CTNNB1 Q302H lies within ARM repeat 4 of the Ctnnb1 protein (UniProt.org). Q302H has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
Q322K missense unknown CTNNB1 Q322K lies within ARM repeat 5 of the Ctnnb1 protein (UniProt.org). Q322K has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
Q703H missense unknown CTNNB1 Q703H does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). Q703H has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
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 premature 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.
R18_R151delinsS indel unknown CTNNB1 R18_R151delinsS results in a deletion of 134 amino acids of the Ctnnb1 protein from aa 18 to aa 151, combined with the insertion of serine (S) at the same site (UniProt.org). R18_R151delinsS has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
R376H missense gain of function - predicted CTNNB1 R376H lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). R376H retains binding to E-Cadherin and Tcf7l2, but results in a loss of binding to Apc in cultured cells, and leads to increased transcriptional activity in a reporter assay (PMID: 31857074), and therefore, is predicted to lead to a gain of Ctnnb1 protein function.
R453L missense unknown CTNNB1 R453L lies within ARM repeat 8 of the Ctnnb1 protein (UniProt.org). R453L has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
R453Q missense unknown CTNNB1 R453Q lies within ARM repeat 8 of the Ctnnb1 protein (UniProt.org). R453Q has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
R515Q missense unknown CTNNB1 R515Q lies within ARM repeat 9 of the Ctnnb1 protein (UniProt.org). R515Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
R535* nonsense loss of function - predicted CTNNB1 R535* results in a premature truncation of the Ctnnb1 protein at amino acid 535 of 781 (UniProt.org). R535* has not been characterized however, due to the effects of other truncation mutations downstream of R535 (PMID: 27368802), is predicted to lead to a loss of Ctnnb1 protein function.
R535Q missense unknown CTNNB1 R535Q lies within ARM repeat 10 of the Ctnnb1 protein (UniProt.org). R535Q has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
R542H missense unknown CTNNB1 R542H lies within ARM repeat 10 of the Ctnnb1 protein (UniProt.org). R542H has been identified in sequencing studies (PMID: 27696107, PMID: 29500272), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
R582P missense unknown CTNNB1 R582P does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). R582P has been identified in the scientific literature (PMID: 31837433), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
R582W missense no effect - predicted CTNNB1 R582W does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). R582W results in Apc, E-cadherin and Tcf7l2 binding similar to wild-type Ctnnb1 in cultured cells, and transcriptional activity similar to wild-type protein in a reporter assay (PMID: 31857074), and therefore, is predicted to have no effect on Ctnnb1 protein function.
R587Q missense unknown CTNNB1 R587Q does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). R587Q has been identified in sequencing studies (PMID: 29937994, PMID: 29107334, PMID: 33021522), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
R717C missense unknown CTNNB1 R717C does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). R717C has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
R95* nonsense loss of function - predicted CTNNB1 R95* results in a premature truncation of the Ctnnb1 protein at amino acid 95 of 781 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R95* is predicted to lead to a loss of Ctnnb1 protein function.
S23G missense no effect - predicted CTNNB1 S23G lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (PMID: 12027456). S23G results in similar transcriptional activation of cyclinD1 compared to wild-type Ctnnb1 in cell culture (PMID: 12049819), and therefore, is predicted to have no effect on Ctnnb1 protein function.
S23R missense unknown CTNNB1 S23R lies within the VCL-interacting region of the Ctnnb1 protein (UniProt.org). The functional effect of S23R is conflicting, as it has been reported to increase Ctnnb1 transcriptional activity (Cancer Res April 15, 2012 72:2249), but in another study had no effect on transcriptional activity (PMID: 12027456), and therefore, its effect on Ctnnb1 protein function is unknown.
S23_S33del deletion unknown CTNNB1 S23_S33del results in the deletion of 11 amino acids in the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 23 to 33 (PMID: 15064718). S23_S33del has been identified in sequencing studies (PMID: 33569316, PMID: 11309340), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
S29F missense no effect - predicted CTNNB1 S29F lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (PMID: 12027456). S29F is not transforming and does not increase Ctnnb1-dependent transcription in cell culture (PMID: 12027456), and therefore, is predicted to have no effect on Ctnnb1 protein function.
S29Y missense unknown CTNNB1 S29Y lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (PMID: 12027456). S29Y has been identified in sequencing studies (PMID: 16356174), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
S33A missense gain of function CTNNB1 S33A lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). S33A confers a gain of function to the Ctnnb1 protein as demonstrated by weak transforming properties and increased cell invasion in culture in one study (PMID: 15829978), and transformation in cell culture and transcriptional activation in a reporter assay in another study (PMID: 12370820).
S33C missense gain of function CTNNB1 S33C lies within the ubiquitination recognition motif of the Ctnnb1 protein and occurs at a Gsk3b phosphorylation site on the Ctnnb1 protein (PMID: 15064718). S33C confers a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 and increased Ctnnb1-driven transcription (PMID: 10076565, PMID: 21881488, PMID: 19582367).
S33F missense gain of function CTNNB1 S33F lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). S33F confers a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 10597262, PMID: 10213482), increased protein expression in patient cells (PMID: 27543871), and increased activity in a reporter assay (PMID: 31857074).
S33L missense unknown CTNNB1 S33L lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). S33L has been identified in the scientific literature (PMID: 32099073), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Nov 2024).
S33N missense gain of function - predicted CTNNB1 S33N lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). S33N is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 11276007).
S33P missense gain of function - predicted CTNNB1 S33P lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). S33P is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 11731417).
S33T missense unknown CTNNB1 S33T lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). S33T has been identified in the scientific literature (PMID: 32099073, PMID: 37593116), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Nov 2024).
S33Y missense gain of function CTNNB1 S33Y lies within the ubiquitination recognition motif of the Ctnnb1 protein and occurs at a Gsk3b phosphorylation site on the Ctnnb1 protein (PMID: 15064718). S33Y confers a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1, increased Ctnnb1-driven transcription, and increased proliferation of cells in culture (PMID: 18757411).
S33_A39del deletion unknown CTNNB1 S33_A39del results in the deletion of seven amino acids in the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 33 to 39 (PMID: 15064718). S33_A39del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
S37A missense gain of function CTNNB1 S37A lies within the ubiquitination recognition motif of the Ctnnb1 protein and occurs at a Gsk3b phosphorylation site on the Ctnnb1 protein (PMID: 10347231). S37A confers a gain of function to the Ctnnb1 protein as demonstrated by decreased ubiquitination and stabilization of Ctnnb1-dependent transcription (PMID: 10347231).
S37C missense gain of function - predicted CTNNB1 S37C lies within the ubiquitination recognition motif of the Ctnnb1 protein and occurs at a Gsk3b phosphorylation site on the Ctnnb1 protein (PMID: 10347231). S37C results in proliferation similar to wild-type Ctnnb1 (PMID: 33987379), however, results in nuclear accumulation of Ctnnb1 (PMID: 12754743, PMID: 10433945) and increased cell migration (PMID: 33987379), and therefore, is predicted to lead to a gain of Ctnnb1 protein function.
S37F missense gain of function CTNNB1 S37F lies within the ubiquitination recognition motif of the Ctnnb1 protein and occurs at a Gsk3b phosphorylation site on the Ctnnb1 protein (PMID: 10347231). S37F confers a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 11196159, PMID: 11943721), increased activity in a reporter assay (PMID: 31857074), and increased cell invasion and migration in the context of an EGFR activating mutation (PMID: 29106415).
S37P missense unknown CTNNB1 S37P lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 10347231). S37P has been identified in the scientific literature (PMID: 11950921, PMID: 30699286, PMID: 35053583), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, May 2024).
S37T missense unknown CTNNB1 S37T lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 10347231). S37T has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, May 2024).
S37Y missense gain of function CTNNB1 S37Y lies within the ubiquitination recognition motif of the Ctnnb1 protein and occurs at a Gsk3b phosphorylation site on the Ctnnb1 protein (PMID: 10347231). S37Y confers a gain of function to the Ctnnb1 protein as demonstrated by stabilization, accumulation of the Ctnnb1 protein (PMID: 9065403) and enhanced repression of SQSTM1 expression (PMID: 29313411).
S45A missense gain of function CTNNB1 S45A lies within a Gsk3b phosphorylation site on the Ctnnb1 protein (UniProt.org). S45A confers a gain of function to the Ctnnb1 protein as demonstrated by stabilization of the Ctnnb1 protein resulting in increased Ctnnb1-dependent transcription (PMID: 19321622).
S45C missense unknown CTNNB1 S45C lies within a Gsk3b phosphorylation site on the Ctnnb1 protein (UniProt.org). S45C has been identified in the scientific literature (PMID: 17551084, PMID: 33720082), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, May 2024).
S45del deletion gain of function CTNNB1 S45del results in the deletion of an amino acid at a Gsk3b phosphorylation site of the Ctnnb1 protein at amino acid 45 (PMID: 9065402). S45del confers a gain of function to the Ctnnb1 protein as demonstrated by stabilization and nuclear accumulation of Ctnnb1 (PMID: 9065402, PMID: 21084400).
S45F missense gain of function CTNNB1 S45F lies within a Gsk3b phosphorylation site on the Ctnnb1 protein (UniProt.org). S45F confers a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 and increased Ctnnb1-dependent transcription (PMID: 18282277).
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 lead to a loss of Ctnnb1 protein function.
S45N missense unknown CTNNB1 S45N lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (UniProt.org). S45N has been identified in the scientific literature (PMID: 26998061, PMID: 26414222), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, May 2024).
S45P missense gain of function CTNNB1 S45P lies within a Gsk3b phosphorylation site on the Ctnnb1 protein (UniProt.org). S45P confers a gain of function to the Ctnnb1 protein as demonstrated by stabilization of the Ctnnb1 protein and increased transcription of Ctnnb1 target genes (PMID: 9065403, PMID: 15133491).
S45T missense unknown CTNNB1 S45T lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (UniProt.org). S45T has been identified in the scientific literature (PMID: 32099073, PMID: 32590455), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, May 2024).
S45Y missense gain of function CTNNB1 S45Y lies within a Gsk3b phosphorylation site on the Ctnnb1 protein (UniProt.org). S45Y confers a gain of function to the Ctnnb1 protein as demonstrated by stabilization of Ctnnb1 and nuclear accumulation of Ctnnb1 (PMID: 9065403, PMID: 10487827).
S45_L46insTSS insertion unknown CTNNB1 S45_L46insTSS results in the insertion of three amino acids in the Ctnnb1 protein between amino acids 45 and 46 (UniProt.org). S45_L46insTSS has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
S45_P52del deletion unknown CTNNB1 S45_P52del results in the deletion of eight amino acids of the Ctnnb1 protein from amino acids 45 to 52 (UniProt.org). S45_P52del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
S45_V57del deletion unknown CTNNB1 S45_V57del results in the deletion of 13 amino acids of the Ctnnb1 protein from amino acids 45 to 57 (UniProt.org). S45_V57del has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
S47L missense unknown CTNNB1 S47L does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). S47L has been identified in sequencing studies (PMID: 25822088), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
S73P missense unknown CTNNB1 S73P does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). S73P has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
T257I missense unknown CTNNB1 T257I lies within ARM repeat 3 of the Ctnnb1 protein (UniProt.org). T257I has been identified in the scientific literature (PMID: 25859559, PMID: 27334835, PMID: 26822237), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
T3_A126del deletion unknown CTNNB1 T3_A126del results in the deletion of 124 amino acids of the Ctnnb1 protein from amino acids 3 to 126 (UniProt.org). T3_A126del has been identified in the scientific literature (PMID: 16496320, PMID: 24735922, PMID: 27939373), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
T40I missense unknown CTNNB1 T40I does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). The functional effect of T40I is conflicting, as it has been associated both with nuclear accumulation of Ctnnb1 and lack of nuclear accumulation of Ctnnb1 in patient samples (PMID: 10213482, PMID: 17096730), and therefore, its effect on Ctnnb1 protein function is unknown.
T40S missense unknown CTNNB1 T40S does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). T40S has been identified in sequencing studies (PMID: 22744289, PMID: 35053583), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
T41A missense gain of function CTNNB1 T41A lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (UniProt.org). T41A confers a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 and increased Ctnnb1-dependent transcription (PMID: 10698519, PMID: 10487827, PMID: 12200448).
T41I missense gain of function - predicted CTNNB1 T41I lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (UniProt.org). T41I is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 10213482).
T41N missense unknown CTNNB1 T41N lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (UniProt.org). T41N has been identified in the scientific literature (PMID: 27389594, PMID: 18757411, PMID: 34534321), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
T41P missense unknown CTNNB1 T41P lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (UniProt.org). T41P has been identified in the scientific literature (PMID: 34534321, PMID: 29224720, PMID: 32514293), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
T41S missense unknown CTNNB1 T41S lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (UniProt.org). T41S has been identified in sequencing studies (PMID: 11329142), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
T41_P52del deletion unknown CTNNB1 T41_P52del results in the deletion of 12 amino acids of the Ctnnb1 protein from amino acids 41 to 52 (UniProt.org). T41_P52del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
T41_S45del deletion unknown CTNNB1 T41_S45del results in the deletion of five amino acids of the Ctnnb1 protein from amino acids 41 to 45 (UniProt.org). T41_S45del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
T41_S47del deletion unknown CTNNB1 T41_S47del results in the deletion of seven amino acids of the Ctnnb1 protein from amino acids 41 to 47 (UniProt.org). T41_S47del has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
T42fs frameshift loss of function - predicted CTNNB1 T42fs results in a change in the amino acid sequence of the Ctnnb1 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.
T42I missense unknown CTNNB1 T42I does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). T42I has been identified in sequencing studies (PMID: 25012536, PMID: 28377483, PMID: 25656989), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
T42K missense unknown CTNNB1 T42K does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). T42K has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
T42R missense unknown CTNNB1 T42R does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). T42R has been identified in sequencing studies (PMID: 18715618), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Oct 2024).
T42_A43insSS insertion unknown CTNNB1 T42_A43insSS results in the insertion of two serines (S) within a phosphorylation cluster required for degradation of the Ctnnb1 protein between amino acids 42 and 43 (PMID: 23169527). T42_A43insSS has been identified in sequencing studies (PMID: 25822088, PMID: 22561517), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Oct 2024).
T42_K49del deletion unknown CTNNB1 T42_K49del results in the deletion of eight amino acids of the Ctnnb1 protein from amino acids 42 to 49 (UniProt.org). T42_K49del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
V199I missense unknown CTNNB1 V199I lies within ARM repeat 2 of the Ctnnb1 protein (UniProt.org). V199I has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Oct 2024).
V22A missense gain of function - predicted CTNNB1 V22A lies within the VCL-interacting region of the Ctnnb1 protein (PMID: 12027456). V22A is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 10213482, PMID: 12474227).
V22G missense unknown CTNNB1 V22G lies within the VCL-interacting region of the Ctnnb1 protein (UniProt.org). V22G has been identified in sequencing studies (PMID: 20923573, PMID: 22653804, PMID: 22722839), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Oct 2024).
V22I missense unknown CTNNB1 V22I lies within the VCL-interacting region of the Ctnnb1 protein (UniProt.org). V22I has been identified in sequencing studies (PMID: 20696052, PMID: 27146902), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Oct 2024).
V22_A97del deletion unknown CTNNB1 V22_A97del results in the deletion of 76 amino acids of the Ctnnb1 protein from amino acids 22 to 97 (UniProt.org). V22_A97del has been identified in sequencing studies (PMID: 24413733, PMID: 27939373, PMID: 24735922), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Oct 2024).
V22_D145del deletion unknown CTNNB1 V22_D145del results in the deletion of 124 amino acids of the Ctnnb1 protein from amino acids 22 to 145 (UniProt.org). V22_D145del has been identified in sequencing studies (PMID: 25822088), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Oct 2024).
V22_G38del deletion unknown CTNNB1 V22_G38del results in the deletion of 17 amino acids in the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 22 to 38 (PMID: 15064718). V22_G38del has been identified in sequencing studies (PMID: 11282485, PMID: 25157968), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Oct 2024).
V22_S33del deletion unknown CTNNB1 V22_S33del results in the deletion of 12 amino acids in the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 22 to 33 (UniProt.org). V22_S33del has been identified in sequencing studies (PMID: 11309340), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
V22_Y64del deletion unknown CTNNB1 V22_Y64del results in the deletion of 43 amino acids of the Ctnnb1 protein from amino acids 22 to 64 (UniProt.org). V22_Y64del has been identified in sequencing studies (PMID: 25822088), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Oct 2024).
W25* nonsense loss of function - predicted CTNNB1 W25* results in a premature truncation of the Ctnnb1 protein at amino acid 25 of 781 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), W25* is predicted to lead to a loss of Ctnnb1 protein function.
W25L missense unknown CTNNB1 W25L does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). W25L has been identified in sequencing studies (PMID: 27248174, PMID: 12067995), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Oct 2024).
W25_D32del deletion gain of function - predicted CTNNB1 W25_D32del results in the deletion of eight amino acids in the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 25 to 32 (PMID: 15064718). W25_D32del is predicted to confer a gain of function to the Ctnnb1 protein, as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 11309340, PMID: 10698519).
W25_H36del deletion gain of function - predicted CTNNB1 W25_H36del results in the deletion of 12 amino acids of the Ctnnb1 protein from amino acids 25 to 36 (UniProt.org). W25_H36del is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 in culture (PMID: 17011185).
W383C missense unknown CTNNB1 W383C lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). W383C has been identified in sequencing studies (PMID: 26416732, PMID: 25021421, PMID: 32592321), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
W383G missense gain of function - predicted CTNNB1 W383G lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). W383G retains binding to E-cadherin and Tcf7l2, but results in a loss of binding to Apc in cultured cells, and leads to increased transcriptional activity in a reporter assay (PMID: 31857074), and therefore, is predicted to lead to a gain of Ctnnb1 protein function.
W383K missense unknown CTNNB1 W383K lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). W383K has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Oct 2024).
W383R missense gain of function CTNNB1 W383R lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). W383R confers a gain of function to the Ctnnb1 protein as indicated by increased transcriptional activity as compared to wild-type Ctnnb1 in cultured cells (PMID: 24735922, PMID: 15579438), and increased Ctnnb1 activity in a reporter assay (PMID: 31857074).
W383S missense unknown CTNNB1 W383S lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). W383S has been identified in the scientific literature (PMID: 34725446, PMID: 31336886), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
W66* nonsense loss of function - predicted CTNNB1 W66* results in a premature truncation of the Ctnnb1 protein at amino acid 66 of 781 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), W66* is predicted to lead to a loss of Ctnnb1 protein function.
wild-type none no effect Wild-type CTNNB1 indicates that no mutation has been detected within the CTNNB1 gene.
Y30* nonsense loss of function - predicted CTNNB1 Y30* results in a premature truncation of the Ctnnb1 protein at amino acid 30 of 781 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Y30* is predicted to lead to a loss of Ctnnb1 protein function.
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.
Y30_S33del deletion unknown CTNNB1 Y30_S33del results in the deletion of four amino acids in the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 30 to 33 (PMID: 15064718). Y30_S33del has been identified in the scientific literature (PMID: 28551672), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024).
Y670* nonsense loss of function - predicted CTNNB1 Y670* results in a premature truncation of the Ctnnb1 protein at amino acid 670 of 781 (UniProt.org). Y670* has not been characterized however, due to the effects of other truncation mutations downstream of Y670 (PMID: 27368802), is predicted to lead to a loss of Ctnnb1 protein function.