Gene Variant Detail

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Gene TP53
Variant L330H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 L330H lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L330H results in decreased Tp53 tetramerization and transcriptional activity in cell culture (PMID: 19454241, PMID: 9766574).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon9 TP53 L330H

TP53 mutant TP53 inact mut TP53 L330H

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Transcript NM_000546.6
gDNA chr17:g.7673539A>T
cDNA c.989T>A
Protein p.L330H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126114.3 chr17:g.7673539A>T c.989T>A p.L330H RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673539A>T c.989T>A p.L330H RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673539A>T c.989T>A p.L330H RefSeq GRCh38/hg38
NM_001407267.1 chr17:g.7669684_7669685delTGinsAT c.989_990delTGinsAT p.L330H RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673539A>T c.989T>A p.L330H RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673539A>T c.989T>A p.L330H RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673539A>T c.989T>A p.L330H RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673539A>T c.989T>A p.L330H RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673539A>T c.989T>A p.L330H RefSeq GRCh38/hg38
NM_001126118.1 chr17:g.7669684_7669685delTGinsAT c.989_990delTGinsAT p.L330H RefSeq GRCh38/hg38
NM_001407265.1 chr17:g.7669684_7669685delTGinsAT c.989_990delTGinsAT p.L330H RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673539A>T c.989T>A p.L330H RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7673539A>T c.989T>A p.L330H RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673539A>T c.989T>A p.L330H RefSeq GRCh38/hg38
NM_000546 chr17:g.7673539A>T c.989T>A p.L330H RefSeq GRCh38/hg38
NM_001276761.3 chr17:g.7669684_7669685delTGinsAT c.989_990delTGinsAT p.L330H RefSeq GRCh38/hg38
NM_001126118 chr17:g.7669684_7669685delCAinsAT c.989_990delTGinsAT p.L330H RefSeq GRCh38/hg38
NM_001276760.1 chr17:g.7669684_7669685delTGinsAT c.989_990delTGinsAT p.L330H RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673539A>T c.989T>A p.L330H RefSeq GRCh38/hg38
NM_001276760 chr17:g.7669684_7669685delCAinsAT c.989_990delTGinsAT p.L330H RefSeq GRCh38/hg38
NM_001407263.1 chr17:g.7669684_7669685delTGinsAT c.989_990delTGinsAT p.L330H RefSeq GRCh38/hg38
NM_001126112 chr17:g.7673539A>T c.989T>A p.L330H RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7673539A>T c.989T>A p.L330H RefSeq GRCh38/hg38
NM_001276761 chr17:g.7669684_7669685delCAinsAT c.989_990delTGinsAT p.L330H RefSeq GRCh38/hg38
NM_001276761.1 chr17:g.7669684_7669685delTGinsAT c.989_990delTGinsAT p.L330H RefSeq GRCh38/hg38
NM_001276760.3 chr17:g.7669684_7669685delTGinsAT c.989_990delTGinsAT p.L330H RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673539A>T c.989T>A p.L330H RefSeq GRCh38/hg38
NM_001126114 chr17:g.7673539A>T c.989T>A p.L330H RefSeq GRCh38/hg38
NM_001126118.2 chr17:g.7669684_7669685delTGinsAT c.989_990delTGinsAT p.L330H 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