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Gene | CTNNB1 |
Variant | W25_D32del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | 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). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 W25_D32del |
Transcript | NM_001098210.2 |
gDNA | chr3:g.41224586_41224609del24 |
cDNA | c.74_97del24 |
Protein | p.W25_D32delWQQQSYLD |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006712985.2 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32delWQQQSYLD | RefSeq | GRCh38/hg38 |
NM_001904.4 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32delWQQQSYLD | RefSeq | GRCh38/hg38 |
XM_047447477.1 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32delWQQQSYLD | RefSeq | GRCh38/hg38 |
XM_017005738.1 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32del | RefSeq | GRCh38/hg38 |
XM_006712985 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32del | RefSeq | GRCh38/hg38 |
NM_001098209.2 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32delWQQQSYLD | RefSeq | GRCh38/hg38 |
XM_017005738.2 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32delWQQQSYLD | RefSeq | GRCh38/hg38 |
XM_024453356.2 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32delWQQQSYLD | RefSeq | GRCh38/hg38 |
NM_001098209 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32del | RefSeq | GRCh38/hg38 |
XM_024453356.1 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32del | RefSeq | GRCh38/hg38 |
XM_047447483.1 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32delWQQQSYLD | RefSeq | GRCh38/hg38 |
XM_024453357.1 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32del | RefSeq | GRCh38/hg38 |
XM_006712985.1 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32del | RefSeq | GRCh38/hg38 |
XM_017005738 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32del | RefSeq | GRCh38/hg38 |
XM_047447480.1 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32delWQQQSYLD | RefSeq | GRCh38/hg38 |
NM_001904 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32del | RefSeq | GRCh38/hg38 |
NM_001904.3 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32del | RefSeq | GRCh38/hg38 |
NM_001098210.2 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32delWQQQSYLD | RefSeq | GRCh38/hg38 |
NM_001098210.1 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32del | RefSeq | GRCh38/hg38 |
NM_001098210 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32del | RefSeq | GRCh38/hg38 |
XM_047447481.1 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32delWQQQSYLD | RefSeq | GRCh38/hg38 |
XM_047447482.1 | chr3:g.41224606_41224629del24 | c.73_96del24 | p.D25_A32delDSGIHSGA | RefSeq | GRCh38/hg38 |
XM_024453358.1 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32del | RefSeq | GRCh38/hg38 |
NM_001330729.2 | chr3:g.41224606_41224629del24 | c.73_96del24 | p.D25_A32delDSGIHSGA | RefSeq | GRCh38/hg38 |
XM_005264886 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32del | RefSeq | GRCh38/hg38 |
XM_047447478.1 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32delWQQQSYLD | RefSeq | GRCh38/hg38 |
NM_001098209.1 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32del | RefSeq | GRCh38/hg38 |
XM_047447479.1 | chr3:g.41224586_41224609del24 | c.74_97del24 | p.W25_D32delWQQQSYLD | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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