Gene Variant Detail

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 (PMID: 11309340, PMID: 10698519).
Associated Drug Resistance

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Transcript NM_001098210
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_005264886 chr3:g.41224586_41224609del24 c.74_97del24 p.W25_D32delWQQQSYLD RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224586_41224609del24 c.74_97del24 p.W25_D32delWQQQSYLD RefSeq GRCh38/hg38
NM_001904 chr3:g.41224586_41224609del24 c.74_97del24 p.W25_D32delWQQQSYLD RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224586_41224609del24 c.74_97del24 p.W25_D32delWQQQSYLD RefSeq GRCh38/hg38
XM_006712983 chr3:g.41224606_41224629del24 c.73_96del24 p.D25_A32delDSGIHSGA RefSeq GRCh38/hg38
XM_006712984 chr3:g.41224606_41224629del24 c.73_96del24 p.D25_A32delDSGIHSGA RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224586_41224609del24 c.74_97del24 p.W25_D32delWQQQSYLD RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224586_41224609del24 c.74_97del24 p.W25_D32delWQQQSYLD RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Protein Effect Treatment Approaches
CTNNB1 W25_D32del gain of function - predicted CTNNB1 Inhibitor PDPK1 Inhibitor Tankyrase Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References