Gene Variant Detail

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Gene CTNNB1
Variant P44L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions 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).
Associated Drug Resistance

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Transcript NM_001098210
gDNA chr3:g.41224643C>T
cDNA c.131C>T
Protein p.P44L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017005738 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
NM_001904 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224643C>T c.131C>T p.P44L 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"

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  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
CTNNB1 P44L unknown