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Gene | TP53 |
Variant | C238_M246del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 C238_M246del results in the deletion of nine amino acids in the DNA-binding domain of the Tp53 protein from amino acids 238 to 246 (UniProt.org). C238_M246del has been identified in sequencing studies (PMID: 11895856), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jul 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 C238_M246del |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674229_7674255del27 |
cDNA | c.712_738del27 |
Protein | p.C238_M246delCNSSCMGGM |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126113.3 | chr17:g.7674229_7674255del27 | c.712_738del27 | p.C238_M246delCNSSCMGGM | RefSeq | GRCh38/hg38 |
NM_001276695.3 | chr17:g.7673765_7673791del27 | c.712_738del27 | p.C238_E246delCPGRDRRTE | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674229_7674255del27 | c.712_738del27 | p.C238_M246delCNSSCMGGM | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674229_7674255del27 | c.712_738del27 | p.C238_M246del | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674229_7674255del27 | c.712_738del27 | p.C238_M246delCNSSCMGGM | RefSeq | GRCh38/hg38 |
NM_001407267.1 | chr17:g.7673765_7673791del27 | c.712_738del27 | p.C238_E246delCPGRDRRTE | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674229_7674255del27 | c.712_738del27 | p.C238_M246delCNSSCMGGM | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674229_7674255del27 | c.712_738del27 | p.C238_M246del | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674229_7674255del27 | c.712_738del27 | p.C238_M246delCNSSCMGGM | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7674229_7674255del27 | c.712_738del27 | p.C238_M246del | RefSeq | GRCh38/hg38 |
NM_001276696.3 | chr17:g.7673765_7673791del27 | c.712_738del27 | p.C238_E246delCPGRDRRTE | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674229_7674255del27 | c.712_738del27 | p.C238_M246delCNSSCMGGM | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7674229_7674255del27 | c.712_738del27 | p.C238_M246del | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7674229_7674255del27 | c.712_738del27 | p.C238_M246del | RefSeq | GRCh38/hg38 |
NM_001407269.1 | chr17:g.7673765_7673791del27 | c.712_738del27 | p.C238_E246delCPGRDRRTE | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674229_7674255del27 | c.712_738del27 | p.C238_M246delCNSSCMGGM | RefSeq | GRCh38/hg38 |
NM_001276761.3 | chr17:g.7673765_7673791del27 | c.712_738del27 | p.C238_E246delCPGRDRRTE | RefSeq | GRCh38/hg38 |
NM_001276760.3 | chr17:g.7673765_7673791del27 | c.712_738del27 | p.C238_E246delCPGRDRRTE | RefSeq | GRCh38/hg38 |
NM_001126118.2 | chr17:g.7673765_7673791del27 | c.712_738del27 | p.C238_E246delCPGRDRRTE | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674229_7674255del27 | c.712_738del27 | p.C238_M246delCNSSCMGGM | RefSeq | GRCh38/hg38 |
NM_001407263.1 | chr17:g.7673765_7673791del27 | c.712_738del27 | p.C238_E246delCPGRDRRTE | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674229_7674255del27 | c.712_738del27 | p.C238_M246delCNSSCMGGM | RefSeq | GRCh38/hg38 |
NM_001407271.1 | chr17:g.7673765_7673791del27 | c.712_738del27 | p.C238_E246delCPGRDRRTE | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674229_7674255del27 | c.712_738del27 | p.C238_M246del | RefSeq | GRCh38/hg38 |
NM_001126115.2 | chr17:g.7669657_7669683del27 | c.712_738del27 | p.K238_S246delKSKKGQSTS | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7674229_7674255del27 | c.712_738del27 | p.C238_M246del | RefSeq | GRCh38/hg38 |
NM_001407265.1 | chr17:g.7673765_7673791del27 | c.712_738del27 | p.C238_E246delCPGRDRRTE | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674229_7674255del27 | c.712_738del27 | p.C238_M246del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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