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Gene APC
Variant I1164fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC I1164fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1164 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). I1164fs has not been characterized, however, due to the effects of other truncation mutations downstream of I1164 (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 I1164fs

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Transcript NM_000038.6
gDNA chr5:g.(112839083_112839084)
cDNA c.(3490_3489)
Protein p.I1164fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510.2 chr5:g.(112839083_112839084) c.(3490_3489) p.I1164fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112839083_112839084) c.(3490_3489) p.I1164fs RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.(112839083_112839084) c.(3490_3489) p.I1164fs RefSeq GRCh38/hg38
NM_000038 chr5:g.(112839083_112839084) c.(3490_3489) p.I1164fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112839083_112839084) c.(3490_3489) p.I1164fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112839083_112839084) c.(3490_3489) p.I1164fs RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.(112839083_112839084) c.(3490_3489) p.I1164fs RefSeq GRCh38/hg38
NM_000038.6 chr5:g.(112839083_112839084) c.(3490_3489) p.I1164fs RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.(112839083_112839084) c.(3490_3489) p.I1164fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
APC I1164fs colorectal cancer sensitive IWR-1 Preclinical - Cell culture Actionable In a preclinical study, IWR-1 inhibited growth of a patient-derived colorectal cancer cell line harboring APC I1164fs in culture (PMID: 28179481). 28179481
APC I1164fs colorectal cancer sensitive G007-LK Preclinical - Patient cell culture Actionable In a preclinical study, G007-LK inhibited growth of a patient-derived colorectal cancer cell line harboring APC I1164fs in culture (PMID: 28179481). 28179481