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Gene | CTNNB1 |
Variant | A21T |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | CTNNB1 A21T lies within the VCL-interacting region of the Ctnnb1 protein (UniProt.org). A21T is predicted to confer a gain of function to Ctnnb1 as demonstrated by nuclear accumulation of Ctnnb1 and increased expression of downstream CCND1 (PMID: 12067995, PMID: 11592102). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 A21T |
Transcript | NM_001098210.2 |
gDNA | chr3:g.41224573G>A |
cDNA | c.61G>A |
Protein | p.A21T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024453356.2 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
XM_047447481.1 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
XM_017005738.2 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
XM_047447479.1 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
NM_001098210.1 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
NM_001098209.2 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
XM_047447477.1 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
XM_047447480.1 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
XM_017005738 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
XM_005264886 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
NM_001904 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
XM_006712985.1 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
XM_006712985 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
XM_017005738.1 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
NM_001098210.2 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
XM_047447478.1 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
NM_001098210 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
XM_006712985.2 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
XM_024453357.1 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
XM_024453356.1 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
NM_001098209.1 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
XM_024453358.1 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
XM_047447483.1 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
NM_001904.3 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
NM_001098209 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
NM_001904.4 | chr3:g.41224573G>A | c.61G>A | p.A21T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CTNNB1 A21T | gain of function - predicted | CTNNB1 Inhibitor PDPK1 Inhibitor Tankyrase Inhibitor |