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Gene | TP53 |
Variant | K319E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 K319E lies within the CCAR2, HIPK1, CARM1, and HIPK2-interacting regions and the bipartite nuclear localization signal motif of the Tp53 protein (UniProt.org). K319E has been identified in sequencing studies (PMID: 29085664), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2025). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon9 TP53 K319E |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673573T>C |
cDNA | c.955A>G |
Protein | p.K319E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |