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Gene | CTNNB1 |
Variant | R717C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CTNNB1 R717C does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). R717C has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 R717C |
Transcript | NM_001098210.2 |
gDNA | chr3:g.41239145C>T |
cDNA | c.2149C>T |
Protein | p.R717C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001098209 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
XM_024453356.1 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
NM_001098209.2 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
XM_017005738 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
XM_024453358.1 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
XM_047447478.1 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
XM_017005738.1 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
XM_047447481.1 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
XM_047447480.1 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
XM_005264886 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
NM_001904.3 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
NM_001098210.1 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
XM_024453356.2 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
XM_024453357.1 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
NM_001098209.1 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
NM_001098210 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
NM_001098210.2 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
XM_047447477.1 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
XM_017005738.2 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
NM_001904 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
NM_001904.4 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
XM_047447479.1 | chr3:g.41239145C>T | c.2149C>T | p.R717C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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