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Gene | TP53 |
Variant | E198_G199del |
Impact List | deletion |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 E198_G199del results in the deletion of two amino acids in the DNA-binding domain of the Tp53 protein from amino acids 198 to 199 (PMID: 22713868). E198_G199del results in increased cytoplasmic localization in Tp53-null cells, increased cellular growth rate, decreased transactivation of Tp53 target genes, and reduced apoptotic function in cell culture (PMID: 23246812). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon6 TP53 E198_G199del TP53 mutant TP53 inact mut TP53 E198_G199del |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674934_7674939delTCCTTC |
cDNA | c.592_597delGAAGGA |
Protein | p.E198_G199delEG |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001276761.3 | chr17:g.7674249_7674254delACACAT | c.593_598delTGTGTA | p.M198_C199delMC | RefSeq | GRCh38/hg38 |
NM_001407263.1 | chr17:g.7674249_7674254delACACAT | c.593_598delTGTGTA | p.M198_C199delMC | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674934_7674939delTCCTTC | c.592_597delGAAGGA | p.E198_G199delEG | RefSeq | GRCh38/hg38 |
NM_001126117.2 | chr17:g.7673535_7673540delCTGAAG | c.592_597delCTTCAG | p.L198_Q199delLQ | RefSeq | GRCh38/hg38 |
NM_001407269.1 | chr17:g.7674249_7674254delACACAT | c.593_598delTGTGTA | p.M198_C199delMC | RefSeq | GRCh38/hg38 |
NM_001126115.2 | chr17:g.7673535_7673540delCTGAAG | c.592_597delCTTCAG | p.L198_Q199delLQ | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7674934_7674939delTCCTTC | c.592_597delGAAGGA | p.E198_G199delEG | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7674934_7674939delTCCTTC | c.592_597delGAAGGA | p.E198_G199del | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7674934_7674939delTCCTTC | c.592_597delGAAGGA | p.E198_G199del | RefSeq | GRCh38/hg38 |
NM_001407267.1 | chr17:g.7674249_7674254delACACAT | c.593_598delTGTGTA | p.M198_C199delMC | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7674934_7674939delTCCTTC | c.592_597delGAAGGA | p.E198_G199del | RefSeq | GRCh38/hg38 |
NM_001276695.3 | chr17:g.7674249_7674254delACACAT | c.593_598delTGTGTA | p.M198_C199delMC | RefSeq | GRCh38/hg38 |
NM_001407271.1 | chr17:g.7674249_7674254delACACAT | c.593_598delTGTGTA | p.M198_C199delMC | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674934_7674939delTCCTTC | c.592_597delGAAGGA | p.E198_G199delEG | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7674934_7674939delTCCTTC | c.592_597delGAAGGA | p.E198_G199del | RefSeq | GRCh38/hg38 |
NM_001126118.2 | chr17:g.7674249_7674254delACACAT | c.593_598delTGTGTA | p.M198_C199delMC | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7674934_7674939delTCCTTC | c.592_597delGAAGGA | p.E198_G199delEG | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674934_7674939delTCCTTC | c.592_597delGAAGGA | p.E198_G199delEG | RefSeq | GRCh38/hg38 |
NM_001407265.1 | chr17:g.7674249_7674254delACACAT | c.593_598delTGTGTA | p.M198_C199delMC | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7674934_7674939delTCCTTC | c.592_597delGAAGGA | p.E198_G199delEG | RefSeq | GRCh38/hg38 |
NM_001276760.3 | chr17:g.7674249_7674254delACACAT | c.593_598delTGTGTA | p.M198_C199delMC | RefSeq | GRCh38/hg38 |
NM_001126116.2 | chr17:g.7673535_7673540delCTGAAG | c.592_597delCTTCAG | p.L198_Q199delLQ | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674934_7674939delTCCTTC | c.592_597delGAAGGA | p.E198_G199delEG | RefSeq | GRCh38/hg38 |
NM_001276696.3 | chr17:g.7674249_7674254delACACAT | c.593_598delTGTGTA | p.M198_C199delMC | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674934_7674939delTCCTTC | c.592_597delGAAGGA | p.E198_G199delEG | RefSeq | GRCh38/hg38 |
NM_001276697.3 | chr17:g.7670636_7670641delTCCTTC | c.592_597delAAGGAG | p.K198_E199delKE | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7674934_7674939delTCCTTC | c.592_597delGAAGGA | p.E198_G199delEG | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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