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Gene Symbol CTNNB1
Synonyms armadillo | CTNNB | EVR7 | MRD19 | NEDSDV
Gene Description CTNNB1, beta-catenin, 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
A13T missense gain of function - predicted CTNNB1 A13T does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). A13T has not been biochemically characterized however, it is predicted to confer a gain of function to Ctnnb1 as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 12067995).
A20V missense unknown CTNNB1 A20V lies within the VCL-interacting region of the Ctnnb1 protein (UniProt.org). A20V was not associated with accumulation of the Ctnnb1 protein in patient samples (PMID: 10213482), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
A21T missense gain of function - predicted CTNNB1 A21T does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). A21T has not been biochemically characterized however, it 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 not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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 not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
A39G missense gain of function - predicted CTNNB1 A39G does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). A39G has not been biochemically characterized however, it is predicted to confer a gain of function to Ctnnb1 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 has not been biochemically characterized however, it is predicted to confer a gain of function to Ctnnb1 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 has not been biochemically characterized however, it is predicted to confer a gain of function to Ctnnb1 as demonstrated by nuclear accumulation of Ctnnb1 (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 has not been biochemically characterized however, it is predicted to confer a gain of function to Ctnnb1 as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 11148558).
A43V missense unknown CTNNB1 A43V does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). A43V was 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 (PubMed, Feb 2020).
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 (PMID: 21084400), and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Oct 2019).
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, Jan 2020).
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, Feb 2020).
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 of the Ctnnb1 protein (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.
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, Feb 2020).
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 on the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (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 (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).
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, Feb 2020).
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), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
E54K missense gain of function - predicted CTNNB1 E54K does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). E54K has not been biochemically characterized however, it is predicted to confer a gain of function to Ctnnb1 as demonstrated by nuclear accumulation of Ctnnb1 (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 in cases to be associated with nuclear accumulation of Ctnnb1 and to be associated with no nuclear accumulation of Ctnnb1 protein (PMID: 10213482).
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, E571* is predicted to lead to a loss of Ctnnb1 protein function (PMID: 27368802).
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 of Ctnnb1, G34* is predicted to lead to a loss of function (UniProt.org).
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 does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). G34E is predicted to confer a gain of function to the Ctnnb1 protein, as demonstrated by resistance to degradation, leading to increased pathway activation (PMID: 18519687).
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 (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 (PMID: 9671767).
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, Feb 2020).
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, Feb 2020).
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, Feb 2020).
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 (PubMed, Feb 2020).
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 adjacent to the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 9233789). 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 in Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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 (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), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
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, Feb 2020).
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, Aug 2019).
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, Feb 2020).
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 unknown CTNNB1 H36R does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). H36R has been identified in the scientific literature (PMID: 18464243, PMID: 17510384), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
H36Y missense gain of function - predicted CTNNB1 H36Y lies adjacent to the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 9233789). 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, Feb 2020).
I35del deletion unknown CTNNB1 I35del results in the deletion of one amino acid in the Ctnnb1 protein at amino acid 35 (UniProt.org). I35del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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 (PMID: 10487827).
I35S missense gain of function - predicted CTNNB1 I35S does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). I35S is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (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 does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). I35V has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
I35_G38del deletion unknown CTNNB1 I35_G38del results in the deletion of 4 amino acids in the Ctnnb1 protein from amino acids 35 to 38 (UniProt.org). I35_G38del has been identified in sequencing studies (PMID: 17187432), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Aug 2019).
K335I missense gain of function - predicted CTNNB1 K335I lies within the ARM repeat 5 of the Ctnnb1 protein (UniProt.org). K335I is weakly activating as compared to Ctnnb1 wild-type in cultured cells (PMID: 24735922, PMID: 15579438) and thus, is predicted lead to a gain of Ctnnb1 protein function.
K335T missense unknown CTNNB1 K335T lies within ARM repeat 5 of the Ctnnb1 protein (UniProt.org). K335T has been identified in the scientific literature (PMID: 26011570, PMID: 24735922, PMID: 27369867), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
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, Oct 2019).
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 a coincident P44L mutation in patient samples (PMID: 12474227), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
L31M missense unknown CTNNB1 L31M does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). L31M has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
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, Feb 2020).
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 confer a loss of function to the Ctnnb1 protein.
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 not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
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), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Oct 2019).
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: 15520370, PMID: 19898734, PMID: 22006429), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
N387K missense gain of function - predicted CTNNB1 N387K lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). N387K is predicted to confer a gain of function to the Ctnnb1 protein, as demonstrated by increased Ctnnb1 transcriptional activity in cell culture (PMID: 27177928).
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, Feb 2020).
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), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
P44A missense gain of function - predicted CTNNB1 P44A lies adjacent to the Gsk3b phosphorylation priming site (PMID: 12051714). P44A is predicted to confer a gain of function to the Ctnnb1 protein, as demonstrated by increased Ctnnb1-dependent transcription (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, Feb 2020).
P44L missense unknown CTNNB1 P44L does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). P44L is associated with nuclear accumulation of Ctnnb1 in the presence of a coincident K49E mutation in patient samples (PMID: 12474227), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
P44S missense unknown CTNNB1 P44S does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). P44S has been identified in the scientific literature (PMID: 25536643, PMID: 10213482), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
P44_S45del deletion gain of function - predicted CTNNB1 P44_S45del results in the deletion of two amino acids within a phosphorylation site of the Ctnnb1 protein from amino acids 44 to 45 (UniProt.org). CTNNB1 P44_S45del has not been biochemically characterized however, it is predicted to confer a gain of function to Ctnnb1 as demonstrated by nuclear accumulation of Ctnnb1(PMID: 19863445).
P52H missense unknown CTNNB1 P52H does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). P52H has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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 the majority of armadillo repeat regions (UniProt.org), Q193* is predicted to confer a loss of function to the Ctnnb1 protein (UniProt.org).
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, Feb 2020).
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, Feb 2020).
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, Feb 2020).
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 most functional domains (UniProt.org), R151fs is predicted to lead to a loss 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, Feb 2020).
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, Feb 2020).
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, Feb 2020).
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, R535* is predicted to lead to a loss of Ctnnb1 protein function (PMID: 27368802).
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, Feb 2020).
R542H missense unknown CTNNB1 R542H lies within ARM repeat 10 of the Ctnnb1 protein (UniProt.org). R542H has been identified in sequencing studies (PMID: 29500272), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
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: 29107334), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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 the majority of armadillo repeat regions (UniProt.org), R95* is predicted to confer a loss of function to the Ctnnb1 protein (UniProt.org).
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 protein in cell culture (PMID: 12049819), and therefore is predicted to have no effect on Ctnnb1 protein function.
S23R missense unknown CTNNB1 S23R lies within a phosphorylation site 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).
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: 11309340), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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 activate 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, Feb 2020).
S33A missense gain of function - predicted CTNNB1 S33A does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). S33A is predicted to confers a gain of function to Ctnnb1 as demonstrated by weak transforming properties and cell invasion in cell culture (PMID: 15829978).
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 - predicted CTNNB1 S33F lies within the ubiquitination recognition motif of the Ctnnb1 protein and occurs at a Gsk3b phosphorylation site on the Ctnnb1 protein (PMID: 15064718). S33F is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 10597262, PMID: 10213482).
S33L missense gain of function - predicted CTNNB1 S33L lies within the ubiquitination recognition motif of the Ctnnb1 protein and occurs at a Gsk3b phosphorylation site on the Ctnnb1 protein (PMID: 15064718). S33L has not been characterized, however other S33 “hotspot” mutations are activating thus, S33L is predicted to result in a gain of Ctnnb1 function (PMID: 19582367, PMID: 18757411, PMID: 15829978).
S33N missense gain of function - predicted CTNNB1 S33N lies within the ubiquitination recognition motif of the Ctnnb1 protein and occurs at a Gsk3b phosphorylation site on 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 (PMID: 11276007).
S33P missense gain of function - predicted CTNNB1 S33P lies within the ubiquitination recognition motif of the Ctnnb1 protein and occurs at a Gsk3b phosphorylation site on 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 (PMID: 11731417).
S33T missense gain of function - predicted CTNNB1 S33T lies within the ubiquitination recognition motif of the Ctnnb1 protein and occurs at a Gsk3b phosphorylation site on the Ctnnb1 protein (PMID: 15064718). S33T has not been characterized, however other S33 hotspot mutations are activating thus, S33T is predicted to result in a gain of Ctnnb1 function (PMID: 19582367, PMID: 18757411, PMID: 15829978).
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).
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 is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 12754743, PMID: 10433945).
S37F missense gain of function - predicted 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 is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 11196159, PMID: 11943721) and increased cell invasion and migration in the context of an EGFR activating mutation (PMID: 29106415).
S37P missense gain of function - predicted CTNNB1 S37P lies within the ubiquitination recognition motif of the Ctnnb1 protein and occurs at a Gsk3b phosphorylation site on the Ctnnb1 protein (PMID: 10347231). S37P has not been characterized, however other S37 “hotspot” mutations are activating thus, S37P is predicted to result in a gain of Ctnnb1 function (PMID: 9671767, PMID: 10347231).
S37T missense gain of function - predicted CTNNB1 S37T lies within the ubiquitination recognition motif of the Ctnnb1 protein and occurs at a Gsk3b phosphorylation site on the Ctnnb1 protein (PMID: 10347231). S37T has not been characterized, however other S37 hotspot mutations are activating thus, S37T is predicted to lead to a gain of Ctnnb1 protein function (PMID: 9065403, PMID: 11196159, PMID: 11943721).
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 gain of function - predicted CTNNB1 S45C lies within a Gsk3b phosphorylation site on the Ctnnb1 protein (UniProt). S45C has not been characterized, however other S45 “hotspot” mutations are activating thus, S45C is predicted to result in a gain of Ctnnb1 function (PMID: 15579438, PMID: 23258168).
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 armadillo domains of Ctnnb1, S45fs is predicted to confer loss of function to the Ctnnb1 protein (UniProt.org).
S45N missense gain of function - predicted CTNNB1 S45N lies within a Gsk3b phosphorylation site on the Ctnnb1 protein (UniProt). S45N has not been characterized, however, other S45 “hotspot” mutations are activating thus, S45N is predicted to result in a gain of Ctnnb1 function (PMID: 15579438, PMID: 23258168).
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 gain of function - predicted CTNNB1 S45T lies within a Gsk3b phosphorylation site on the Ctnnb1 protein (UniProt.org). S45T is predicted to confer a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 11443619).
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, Feb 2020).
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, Feb 2020).
S73P missense unknown CTNNB1 S73P does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). S73P has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
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 sequencing studies (PMID: 16496320), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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).
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), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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 has not been biochemically characterized, however, it is predicted to confer a gain of function to Ctnnb1 as demonstrated by nuclear accumulation of Ctnnb1(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), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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: 22470196, PMID: 21323741, PMID: 29224720), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
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, Feb 2020).
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 armadillo domains of Ctnnb1, T42fs is predicted to confer loss of function to the Ctnnb1 protein (UniProt.org).
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, Feb 2020).
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, Feb 2020).
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, Feb 2020).
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), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
V22A missense gain of function - predicted CTNNB1 V22A lies adjacent to a Gsk3b phosphorylation site on 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 (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, Feb 2020).
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), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Oct 2019).
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, Feb 2020).
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, Feb 2020).
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 23 to 33 (PMID: 15064718). 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, Feb 2020).
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, Feb 2020).
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 of Ctnnb1, W25* is predicted to lead to a loss of function (UniProt.org).
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: 12067995), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Feb 2020).
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 (PMID: 11309340, PMID: 10698519).
W25_H36del deletion gain of function - predicted CTNNB1 W25_H36del results in the deletion of twelve amino acids in 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 (PMID: 17011185).
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, Feb 2020).
W383R missense gain of function - predicted CTNNB1 W383R lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). W383R results in increased transcriptional activity as compared to wild-type Ctnnb1 in cultured cells and therefore, is predicted to lead to a gain of Ctnnb1 protein function (PMID: 24735922, PMID: 15579438).
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 result in 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 of Ctnnb1, Y30* is predicted to lead to a loss of function (UniProt.org).
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 of the Ctnnb1 protein, Y30fs is predicted to lead to a loss of function (UniProt.org).
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, Mar 2020).
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, Y670* is predicted to lead to a loss of Ctnnb1 protein function (PMID: 27368802).