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Gene | TP53 |
Variant | E204fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 E204fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 204 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). E204fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of E204 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon6 TP53 E204fs TP53 mutant TP53 inact mut TP53 E204fs |
Transcript | NM_000546.6 |
gDNA | chr17:g.(7674921_7674922) |
cDNA | c.(610_609) |
Protein | p.E204fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407264.1 | chr17:g.(7674921_7674922) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.(7674921_7674922) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.(7674921_7674922) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.(7674921_7674922) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.(7674921_7674922) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_001126115.2 | chr17:g.(7670703_7670704) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.(7674921_7674922) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.(7674921_7674922) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.(7674921_7674922) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.(7674921_7674922) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.(7674921_7674922) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_001126115.1 | chr17:g.(7670703_7670704) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.(7674921_7674922) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.(7674921_7674922) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.(7674921_7674922) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.(7674921_7674922) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.(7674921_7674922) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.(7674921_7674922) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.(7674921_7674922) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
NM_001126115 | chr17:g.(7670703_7670704) | c.(610_609) | p.E204fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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