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Gene TP53
Variant N30fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 N30fs results in a change in the amino acid sequence of the Tp53 protein beginning at 30 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). N30fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of N30 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 inact mut TP53 N30fs

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Transcript NM_000546.6
gDNA chr17:g.(7676390_7676391)
cDNA c.(88_87)
Protein p.N30fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546.5 chr17:g.(7676390_7676391) c.(88_87) p.N30fs RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.(7676390_7676391) c.(88_87) p.N30fs RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.(7676390_7676391) c.(88_87) p.N30fs RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.(7676390_7676391) c.(88_87) p.N30fs RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.(7676390_7676391) c.(88_87) p.N30fs RefSeq GRCh38/hg38
NM_001126114 chr17:g.7676390delT c.89delA p.N30fs*14 RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.(7676390_7676391) c.(88_87) p.N30fs RefSeq GRCh38/hg38
NM_000546.6 chr17:g.(7676390_7676391) c.(88_87) p.N30fs RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.(7676390_7676391) c.(88_87) p.N30fs RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.(7676390_7676391) c.(88_87) p.N30fs RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.(7676390_7676391) c.(88_87) p.N30fs RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.(7676390_7676391) c.(88_87) p.N30fs RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.(7676390_7676391) c.(88_87) p.N30fs RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.(7676390_7676391) c.(88_87) p.N30fs RefSeq GRCh38/hg38
NM_001126112 chr17:g.7676390delT c.89delA p.N30fs*14 RefSeq GRCh38/hg38
NM_001126113 chr17:g.7676390delT c.89delA p.N30fs*14 RefSeq GRCh38/hg38
NM_000546 chr17:g.7676390delT c.89delA p.N30fs*14 RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
TP53 N30fs loss of function - predicted p53 Gene Therapy