Gene Variant Detail

Gene CTNNB1
Variant P44_S45del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions 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).
Associated Drug Resistance

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Transcript NM_001098210
gDNA chr3:g.41224643_41224648delCTTCTC
cDNA c.131_136delCTTCTC
Protein p.P44_S45delPS
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001098210 chr3:g.41224643_41224648delCTTCTC c.131_136delCTTCTC p.P44_S45delPS RefSeq GRCh38/hg38
XM_006712983 chr3:g.41224663_41224668delAATCCT c.130_135delAATCCT p.N44_P45delNP RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224643_41224648delCTTCTC c.131_136delCTTCTC p.P44_S45delPS RefSeq GRCh38/hg38
XM_006712984 chr3:g.41224663_41224668delAATCCT c.130_135delAATCCT p.N44_P45delNP RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224643_41224648delCTTCTC c.131_136delCTTCTC p.P44_S45delPS RefSeq GRCh38/hg38
NM_001904 chr3:g.41224643_41224648delCTTCTC c.131_136delCTTCTC p.P44_S45delPS RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224643_41224648delCTTCTC c.131_136delCTTCTC p.P44_S45delPS RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224643_41224648delCTTCTC c.131_136delCTTCTC p.P44_S45delPS RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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 P44_S45del 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