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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_001904.4 |
gDNA | chr3:g.41224573G>A |
cDNA | c.61G>A |
Protein | p.A21T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |