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Gene APC
Variant C1289fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC C1289fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1289 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). C1289fs has not been characterized, however, due to the effects of other truncation mutations downstream of C1289 (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 C1289fs

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Transcript NM_000038.6
gDNA chr5:g.(112839458_112839459)
cDNA c.(3865_3864)
Protein p.C1289fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354895.2 chr5:g.(112839458_112839459) c.(3865_3864) p.C1289fs RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.(112839458_112839459) c.(3865_3864) p.C1289fs RefSeq GRCh38/hg38
NM_000038 chr5:g.(112839458_112839459) c.(3865_3864) p.C1289fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112839458_112839459) c.(3865_3864) p.C1289fs RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.(112839458_112839459) c.(3865_3864) p.C1289fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112839458_112839459) c.(3865_3864) p.C1289fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112839458_112839459) c.(3865_3864) p.C1289fs RefSeq GRCh38/hg38
NM_000038.6 chr5:g.(112839458_112839459) c.(3865_3864) p.C1289fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112839458_112839459) c.(3865_3864) p.C1289fs RefSeq GRCh38/hg38

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