Gene Variant Detail

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Gene TP53
Variant G244S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 G244S lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). G244S results in a loss of CDKN1A (p21Cip1) transactivation by Tp53 and increased proliferation relative to wild-type in culture (PMID: 26818906).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 G244S

TP53 mutant TP53 inact mut TP53 G244S

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Transcript NM_000546.6
gDNA chr17:g.7674233C>T
cDNA c.730G>A
Protein p.G244S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126113 chr17:g.7674233C>T c.730G>A p.G244S RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674233C>T c.730G>A p.G244S RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674233C>T c.730G>A p.G244S RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674233C>T c.730G>A p.G244S RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674233C>T c.730G>A p.G244S RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674233C>T c.730G>A p.G244S RefSeq GRCh38/hg38
NM_000546 chr17:g.7674233C>T c.730G>A p.G244S RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674233C>T c.730G>A p.G244S RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674233C>T c.730G>A p.G244S RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674233C>T c.730G>A p.G244S RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674233C>T c.730G>A p.G244S RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674233C>T c.730G>A p.G244S RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674233C>T c.730G>A p.G244S RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674233C>T c.730G>A p.G244S RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674233C>T c.730G>A p.G244S RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674233C>T c.730G>A p.G244S RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674233C>T c.730G>A p.G244S RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TP53 G244S mantle cell lymphoma predicted - sensitive Ibrutinib + Rituximab Case Reports/Case Series Actionable In a clinical case study, a patient with non-nodal leukemic mantle cell lymphoma harboring TP53 G244S, as well as KMT2A V2593A and BCOR S830Cfs*6, achieved complete remission (CR) with no evident minimum residual disease after 5 months of combined Rituxan (rituximab) and Imbruvica (ibrutinib) therapy, and following subsequent autologous stem-cell transplantation remained in CR beyond 18 months (PMID: 30559058). 30559058