TP53 L330A
Gene Variant Detail

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Gene TP53
Variant L330A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 L330A lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L330A results in a monomeric Tp53 protein and altered subcellular localization in cultured cells, and decreased MDM2-mediated mono- and polyubiquitination in an in vitro assay (PMID: 29549180).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon9 TP53 L330A

TP53 mutant TP53 inact mut TP53 L330A

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Transcript NM_000546.6
gDNA chr17:g.7673539_7673540delCTinsGC
cDNA c.988_989delCTinsGC
Protein p.L330A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546.5 chr17:g.7673539_7673540delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001126118.1 chr17:g.7669685_7669686delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7673539_7673540delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673539_7673540delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001407265.1 chr17:g.7669685_7669686delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001407267.1 chr17:g.7669685_7669686delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673539_7673540delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673539_7673540delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673539_7673540delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001276761.3 chr17:g.7669685_7669686delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001276760.3 chr17:g.7669685_7669686delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673539_7673540delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673539_7673540delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001276760.1 chr17:g.7669685_7669686delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673539_7673540delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001126118.2 chr17:g.7669685_7669686delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673539_7673540delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001276761.1 chr17:g.7669685_7669686delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673539_7673540delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673539_7673540delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7673539_7673540delCTinsGC c.988_989delCTinsGC p.L330A RefSeq GRCh38/hg38
NM_001407263.1 chr17:g.7669685_7669686delCTinsGC c.988_989delCTinsGC p.L330A 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.

Molecular Profile Protein Effect Treatment Approaches
TP53 L330A loss of function