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Gene APC
Variant P1483fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC P1483fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1483 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1483fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1483 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function.
Associated Drug Resistance
Category Variants Paths

APC mutant APC inact mut APC P1483fs

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Transcript NM_000038.6
gDNA chr5:g.(112840040_112840041)
cDNA c.(4447_4446)
Protein p.P1483fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038.5 chr5:g.(112840040_112840041) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112840040_112840041) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38
NM_001407453.1 chr5:g.(112840217_112840218) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38
NM_000038 chr5:g.(112840040_112840041) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38
NM_001354904.2 chr5:g.(112840418_112840419) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38
NM_001354901.2 chr5:g.(112840217_112840218) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.(112840040_112840041) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.(112840040_112840041) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38
NM_001407460.1 chr5:g.(112840343_112840344) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38
NM_000038.6 chr5:g.(112840040_112840041) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112840040_112840041) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38
NM_001354903.2 chr5:g.(112840343_112840344) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38
NM_001354904.1 chr5:g.(112840418_112840419) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38
NM_001407458.1 chr5:g.(112840343_112840344) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38
NM_001354903.1 chr5:g.(112840343_112840344) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.(112840040_112840041) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38
NM_001354901.1 chr5:g.(112840217_112840218) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38
NM_001407459.1 chr5:g.(112840343_112840344) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112840040_112840041) c.(4447_4446) p.P1483fs RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries