Gene Variant Detail

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Gene TP53
Variant D228fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 D228fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 228 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). D228fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of D228 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 D228fs

TP53 mutant TP53 inact mut TP53 D228fs

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Transcript NM_000546.6
gDNA chr17:g.(7674281_7674282)
cDNA c.(682_681)
Protein p.D228fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112 chr17:g.(7674281_7674282) c.(682_681) p.D228fs RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.(7674281_7674282) c.(682_681) p.D228fs RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.(7674281_7674282) c.(682_681) p.D228fs RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.(7674281_7674282) c.(682_681) p.D228fs RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.(7674281_7674282) c.(682_681) p.D228fs RefSeq GRCh38/hg38
NM_001126113 chr17:g.(7674281_7674282) c.(682_681) p.D228fs RefSeq GRCh38/hg38
NM_000546.6 chr17:g.(7674281_7674282) c.(682_681) p.D228fs RefSeq GRCh38/hg38
NM_000546.5 chr17:g.(7674281_7674282) c.(682_681) p.D228fs RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.(7674281_7674282) c.(682_681) p.D228fs RefSeq GRCh38/hg38
NM_000546 chr17:g.(7674281_7674282) c.(682_681) p.D228fs RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.(7674281_7674282) c.(682_681) p.D228fs RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.(7674281_7674282) c.(682_681) p.D228fs RefSeq GRCh38/hg38
NM_001126114 chr17:g.(7674281_7674282) c.(682_681) p.D228fs RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.(7674281_7674282) c.(682_681) p.D228fs RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.(7674281_7674282) c.(682_681) p.D228fs RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.(7674281_7674282) c.(682_681) p.D228fs RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.(7674281_7674282) c.(682_681) p.D228fs RefSeq GRCh38/hg38

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