Gene Variant Detail

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Gene TP53
Variant L130I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TP53 L130I lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L130I has been identified in sequencing studies (PMID: 28949453, PMID: 26319365, PMID: 31754145), 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 exon5 TP53 L130I

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Transcript NM_000546.6
gDNA chr17:g.7675224G>T
cDNA c.388C>A
Protein p.L130I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001276699.1 chr17:g.7673755G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7675224G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001126113 chr17:g.7675224G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_000546 chr17:g.7675224G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7675224G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001126114 chr17:g.7675224G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7675224G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001126112 chr17:g.7675224G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001276697.3 chr17:g.7673755G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7675224G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001276698.1 chr17:g.7673755G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001276697.1 chr17:g.7673755G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7675224G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001276699 chr17:g.7673755G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7675224G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001276699.3 chr17:g.7673755G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7675224G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7675224G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001276698 chr17:g.7673755G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001276698.3 chr17:g.7673755G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001276697 chr17:g.7673755G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7675224G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7675224G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7675224G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7675224G>T c.388C>A p.L130I RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7675224G>T c.388C>A p.L130I RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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

  • 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries