Gene Variant Detail

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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, Feb 2024).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon9 TP53 K319E

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Transcript NM_000546.6
gDNA chr17:g.7673573T>C
cDNA c.955A>G
Protein p.K319E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546.5 chr17:g.7673573T>C c.955A>G p.K319E RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7673573T>C c.955A>G p.K319E RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673573T>C c.955A>G p.K319E RefSeq GRCh38/hg38
NM_000546 chr17:g.7673573T>C c.955A>G p.K319E RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673573T>C c.955A>G p.K319E RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7673573T>C c.955A>G p.K319E RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673573T>C c.955A>G p.K319E RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673573T>C c.955A>G p.K319E RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673573T>C c.955A>G p.K319E RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673573T>C c.955A>G p.K319E RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673573T>C c.955A>G p.K319E RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673573T>C c.955A>G p.K319E RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673573T>C c.955A>G p.K319E RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673573T>C c.955A>G p.K319E RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673573T>C c.955A>G p.K319E RefSeq GRCh38/hg38
NM_001126114 chr17:g.7673573T>C c.955A>G p.K319E RefSeq GRCh38/hg38
NM_001126112 chr17:g.7673573T>C c.955A>G p.K319E 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