Gene Variant Detail

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Gene APC
Variant C1578fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions APC C1578fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1578 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). C1578fs has been identified in sequencing studies (PMID: 20102718), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
Associated Drug Resistance
Category Variants Paths

APC mutant APC C1578fs

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Transcript NM_000038.5
gDNA chr5:g.(112840325_112840326)
cDNA c.(4732_4731)
Protein p.C1578fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038.5 chr5:g.(112840325_112840326) c.(4732_4731) p.C1578fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112840325_112840326) c.(4732_4731) p.C1578fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112840325_112840326) c.(4732_4731) p.C1578fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112840325_112840326) c.(4732_4731) p.C1578fs RefSeq GRCh38/hg38
NM_000038 chr5:g.(112840325_112840326) c.(4732_4731) p.C1578fs RefSeq GRCh38/hg38

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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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