Gene Variant Detail

Gene CTNNB1
Variant S47L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions 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 2019).
Associated Drug Resistance

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Transcript NM_001098210
gDNA chr3:g.41224651_41224652delAGinsCT
cDNA c.139_140delAGinsCT
Protein p.S47L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001904 chr3:g.41224651_41224652delAGinsCT c.139_140delAGinsCT p.S47L RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224651_41224652delAGinsCT c.139_140delAGinsCT p.S47L RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224651_41224652delAGinsCT c.139_140delAGinsCT p.S47L RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224651_41224652delAGinsCT c.139_140delAGinsCT p.S47L RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224651_41224652delAGinsCT c.139_140delAGinsCT p.S47L RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224651_41224652delAGinsCT c.139_140delAGinsCT p.S47L 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 )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
CTNNB1 S47L unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References