Gene Variant Detail

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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

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Transcript NM_000546.6
gDNA chr17:g.7673572T>C
cDNA c.956A>G
Protein p.K319R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407264.1 chr17:g.7673572T>C c.956A>G p.K319R RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673572T>C c.956A>G p.K319R RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673572T>C c.956A>G p.K319R RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673572T>C c.956A>G p.K319R RefSeq GRCh38/hg38
NM_001126114 chr17:g.7673572T>C c.956A>G p.K319R RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673572T>C c.956A>G p.K319R RefSeq GRCh38/hg38
NM_000546 chr17:g.7673572T>C c.956A>G p.K319R RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7673572T>C c.956A>G p.K319R RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673572T>C c.956A>G p.K319R RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7673572T>C c.956A>G p.K319R RefSeq GRCh38/hg38
NM_001126112 chr17:g.7673572T>C c.956A>G p.K319R RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673572T>C c.956A>G p.K319R RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673572T>C c.956A>G p.K319R RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673572T>C c.956A>G p.K319R RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673572T>C c.956A>G p.K319R RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673572T>C c.956A>G p.K319R RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673572T>C c.956A>G p.K319R RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References