Gene Variant Detail

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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

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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_001126115 chr17:g.(7670703_7670704) c.(610_609) p.E204fs RefSeq GRCh38/hg38
NM_000546 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_000546.6 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_001126115.2 chr17:g.(7670703_7670704) c.(610_609) p.E204fs RefSeq GRCh38/hg38
NM_001407266.1 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_001407264.1 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_001407268.1 chr17:g.(7674921_7674922) 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_001126115.1 chr17:g.(7670703_7670704) c.(610_609) p.E204fs RefSeq GRCh38/hg38
NM_001407262.1 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_001126114.2 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_001126112.3 chr17:g.(7674921_7674922) c.(610_609) p.E204fs RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.(7674921_7674922) c.(610_609) p.E204fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References