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Gene | CTNNB1 |
Variant | K335T |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | CTNNB1 K335T lies within ARM repeat 5 of the Ctnnb1 protein (UniProt.org). K335T results in increased Ctnnb1 activity in a reporter assay (PMID: 31857074), and therefore, is predicted to lead to a gain of Ctnnb1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 act mut CTNNB1 K335T |
Transcript | NM_001904.4 |
gDNA | chr3:g.41227275A>C |
cDNA | c.1004A>C |
Protein | p.K335T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |