Gene Variant Detail

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Gene TP53
Variant V122fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 V122fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 122 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). V122fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of V122 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon4 TP53 V122fs

TP53 mutant TP53 inact mut TP53 V122fs

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Transcript NM_000546.6
gDNA chr17:g.(7676005_7676006)
cDNA c.(364_363)
Protein p.V122fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126113.3 chr17:g.(7676005_7676006) c.(364_363) p.V122fs RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.(7676005_7676006) c.(364_363) p.V122fs RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.(7676005_7676006) c.(364_363) p.V122fs RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.(7676005_7676006) c.(364_363) p.V122fs RefSeq GRCh38/hg38
NM_001126113 chr17:g.(7676005_7676006) c.(364_363) p.V122fs RefSeq GRCh38/hg38
NM_000546.6 chr17:g.(7676005_7676006) c.(364_363) p.V122fs RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.(7676005_7676006) c.(364_363) p.V122fs RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.(7676005_7676006) c.(364_363) p.V122fs RefSeq GRCh38/hg38
NM_001126112 chr17:g.(7676005_7676006) c.(364_363) p.V122fs RefSeq GRCh38/hg38
NM_000546.5 chr17:g.(7676005_7676006) c.(364_363) p.V122fs RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.(7676005_7676006) c.(364_363) p.V122fs RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.(7676005_7676006) c.(364_363) p.V122fs RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.(7676005_7676006) c.(364_363) p.V122fs RefSeq GRCh38/hg38
NM_000546 chr17:g.(7676005_7676006) c.(364_363) p.V122fs RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.(7676005_7676006) c.(364_363) p.V122fs RefSeq GRCh38/hg38
NM_001126114 chr17:g.(7676005_7676006) c.(364_363) p.V122fs RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.(7676005_7676006) c.(364_363) p.V122fs RefSeq GRCh38/hg38

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