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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 |
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_001407270.1 | 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_001126114.3 | 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_001126113.2 | 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_001276698.3 | chr17:g.7673755G>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_000546 | 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 |
NM_001276699.1 | chr17:g.7673755G>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_000546.6 | chr17:g.7675224G>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_001126113.3 | 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_001126112.2 | chr17:g.7675224G>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_001126114.2 | 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_001126114 | 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_001126112 | chr17:g.7675224G>T | c.388C>A | p.L130I | RefSeq | GRCh38/hg38 |
NM_001276697 | 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 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 L130I | unknown |