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Gene APC
Variant A1485fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC A1485fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1485 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1485fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1485 (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 A1485fs

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Transcript NM_000038.6
gDNA chr5:g.(112840046_112840047)
cDNA c.(4453_4452)
Protein p.A1485fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038 chr5:g.(112840046_112840047) c.(4453_4452) p.A1485fs RefSeq GRCh38/hg38
NM_001407446.1 chr5:g.(112839962_112839963) c.(4453_4452) p.A1485fs RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.(112840046_112840047) c.(4453_4452) p.A1485fs RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.(112840046_112840047) c.(4453_4452) p.A1485fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112840046_112840047) c.(4453_4452) p.A1485fs RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.(112840046_112840047) c.(4453_4452) p.A1485fs RefSeq GRCh38/hg38
NM_000038.6 chr5:g.(112840046_112840047) c.(4453_4452) p.A1485fs RefSeq GRCh38/hg38
NM_001354897.2 chr5:g.(112840016_112840017) c.(4453_4452) p.A1485fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112840046_112840047) c.(4453_4452) p.A1485fs RefSeq GRCh38/hg38
NM_001354897.1 chr5:g.(112840016_112840017) c.(4453_4452) p.A1485fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112840046_112840047) c.(4453_4452) p.A1485fs RefSeq GRCh38/hg38
NM_001407451.1 chr5:g.(112840067_112840068) c.(4453_4452) p.A1485fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112840046_112840047) c.(4453_4452) p.A1485fs 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References