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Gene | TP53 |
Variant | K319R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 K319R lies within the CCAR2, HIPK1, HIPK2, and CARM1-interacting regions and bipartite nuclear localization signal motif of the Tp53 protein (UniProt.org). K319R leads to a decrease in the post-translational modification, beta-hydroxybutyrylation, relative to wild-type Tp53 in culture (PMID: 30858356), but shows similar levels of Daxx binding compared to wild-type Tp53 in yeast (PMID: 15364927), and therefore, its effect on Tp53 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon9 TP53 K319R |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673572T>C |
cDNA | c.956A>G |
Protein | p.K319R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |