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Gene | TP53 |
Variant | C242_R248delinsW |
Impact List | indel |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 C242_R248delinsW results in a deletion of seven amino acids in the DNA-binding domain of the Tp53 protein from amino acids 242 to 248, combined with the insertion of a tryptophan (W) at the same site (UniProt.org). C242_R248delinsW has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 C242_R248delinsW |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674221_7674238del18 |
cDNA | c.726_743del18 |
Protein | p.C242_R248delinsW |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126113.3 | chr17:g.7674221_7674238del18 | c.726_743del18 | p.C242_R248delinsW | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674221_7674238del18 | c.726_743del18 | p.C242_R248delinsW | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674221_7674238del18 | c.726_743del18 | p.C242_R248delinsW | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674221_7674238del18 | c.726_743del18 | p.C242_R248delinsW | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674221_7674238del18 | c.726_743del18 | p.C242_R248delinsW | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674221_7674238del18 | c.726_743del18 | p.C242_R248delinsW | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674221_7674238del18 | c.726_743del18 | p.C242_R248delinsW | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674221_7674238del18 | c.726_743del18 | p.C242_R248delinsW | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674221_7674238del18 | c.726_743del18 | p.C242_R248delinsW | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674221_7674238del18 | c.726_743del18 | p.C242_R248delinsW | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674221_7674238del18 | c.726_743del18 | p.C242_R248delinsW | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674221_7674238del18 | c.726_743del18 | p.C242_R248delinsW | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674221_7674238del18 | c.726_743del18 | p.C242_R248delinsW | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674221_7674238del18 | c.726_743del18 | p.C242_R248delinsW | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7674221_7674238del18 | c.726_743del18 | p.C242_R248delinsW | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674221_7674238del18 | c.726_743del18 | p.C242_R248delinsW | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674221_7674238del18 | c.726_743del18 | p.C242_R248delinsW | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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