Gene Variant Detail

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Gene TP53
Variant K120A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 K120A lies within the DNA binding region of the Tp53 protein (UniProt.org). K120A results in impaired oligomerization of the pro-apoptotic protein Bak by Tp53 in an in vitro assay (PMID: 18524770), and results in decreased DNA binding and transactivation of Tp53 targets when expressed at physiological levels in culture (PMID: 16687402).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon4 TP53 K120A

TP53 mutant TP53 inact mut TP53 K120A

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Transcript NM_000546.6
gDNA chr17:g.7676010_7676011delAAinsGC
cDNA c.358_359delAAinsGC
Protein p.K120A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546.6 chr17:g.7676010_7676011delAAinsGC c.358_359delAAinsGC p.K120A RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7676010_7676011delAAinsGC c.358_359delAAinsGC p.K120A RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7676010_7676011delAAinsGC c.358_359delAAinsGC p.K120A RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7676010_7676011delAAinsGC c.358_359delAAinsGC p.K120A RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7676010_7676011delAAinsGC c.358_359delAAinsGC p.K120A RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7676010_7676011delAAinsGC c.358_359delAAinsGC p.K120A RefSeq GRCh38/hg38
NM_000546 chr17:g.7676010_7676011delTTinsGC c.358_359delAAinsGC p.K120A RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7676010_7676011delAAinsGC c.358_359delAAinsGC p.K120A RefSeq GRCh38/hg38
NM_001126113 chr17:g.7676010_7676011delTTinsGC c.358_359delAAinsGC p.K120A RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7676010_7676011delAAinsGC c.358_359delAAinsGC p.K120A RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7676010_7676011delAAinsGC c.358_359delAAinsGC p.K120A RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7676010_7676011delAAinsGC c.358_359delAAinsGC p.K120A RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7676010_7676011delAAinsGC c.358_359delAAinsGC p.K120A RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7676010_7676011delAAinsGC c.358_359delAAinsGC p.K120A RefSeq GRCh38/hg38
NM_001126112 chr17:g.7676010_7676011delTTinsGC c.358_359delAAinsGC p.K120A RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7676010_7676011delAAinsGC c.358_359delAAinsGC p.K120A RefSeq GRCh38/hg38
NM_001126114 chr17:g.7676010_7676011delTTinsGC c.358_359delAAinsGC p.K120A RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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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