Gene Variant Detail

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Gene TP53
Variant L111Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TP53 L111Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L111Q has been identified in the scientific literature (PMID: 27179933, PMID: 25471132, PMID: 29386642), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2022).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon4 TP53 L111Q

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Transcript NM_000546.5
gDNA chr17:g.7676037A>T
cDNA c.332T>A
Protein p.L111Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112.2 chr17:g.7676037A>T c.332T>A p.L111Q RefSeq GRCh38/hg38
NM_001126114 chr17:g.7676037A>T c.332T>A p.L111Q RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7676037A>T c.332T>A p.L111Q RefSeq GRCh38/hg38
NM_000546 chr17:g.7676037A>T c.332T>A p.L111Q RefSeq GRCh38/hg38
NM_001126112 chr17:g.7676037A>T c.332T>A p.L111Q RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7676037A>T c.332T>A p.L111Q RefSeq GRCh38/hg38
NM_001126113 chr17:g.7676037A>T c.332T>A p.L111Q RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7676037A>T c.332T>A p.L111Q RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TP53 L111Q ovarian cancer sensitive APR-246 + Cisplatin Preclinical - Patient cell culture Actionable In a preclinical study, the combination of APR-246 and Platinol (cisplatin) resulted in strong synergism, thereby reducing cell viability in patient derived ovarian cancer cells harboring TP53 L111Q in culture (PMID: 27179933). 27179933