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Gene TP53
Variant Y126H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 Y126H lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y126H results in subcellular localization similar to wild-type protein in Tp53-null cells, but leads to increased cellular growth rate, decreased transactivation of Tp53 target genes (PMID: 23246812), increased Nek2 expression in cell culture (PMID: 35088582), and reduced apoptotic function in cell culture (PMID: 23246812).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon5 TP53 Y126H

TP53 mutant TP53 inact mut TP53 Y126H

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Transcript NM_000546.6
gDNA chr17:g.7675236A>G
cDNA c.376T>C
Protein p.Y126H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112.3 chr17:g.7675236A>G c.376T>C p.Y126H RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7675236A>G c.376T>C p.Y126H RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7675236A>G c.376T>C p.Y126H RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7675236A>G c.376T>C p.Y126H RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7675236A>G c.376T>C p.Y126H RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7675236A>G c.376T>C p.Y126H RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7675236A>G c.376T>C p.Y126H RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7675236A>G c.376T>C p.Y126H RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7675236A>G c.376T>C p.Y126H RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7675236A>G c.376T>C p.Y126H RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7675236A>G c.376T>C p.Y126H RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7675236A>G c.376T>C p.Y126H RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7675236A>G c.376T>C p.Y126H RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References