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Gene APC
Variant E1309fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC E1309fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1309 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1309fs has not been characterized, however, based on the effects of a similar frameshift mutation at E1309 (PMID: 10213492, PMID: 17189293), is predicted to lead to a loss of Apc protein function.
Associated Drug Resistance
Category Variants Paths

APC mutant APC inact mut APC E1309fs

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Transcript NM_000038.6
gDNA chr5:g.(112839518_112839519)
cDNA c.(3925_3924)
Protein p.E1309fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354895.1 chr5:g.(112839518_112839519) c.(3925_3924) p.E1309fs RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.(112839518_112839519) c.(3925_3924) p.E1309fs RefSeq GRCh38/hg38
NM_001407472.1 chr5:g.(112840670_112840671) c.(3925_3924) p.E1309fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112839518_112839519) c.(3925_3924) p.E1309fs RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.(112839518_112839519) c.(3925_3924) p.E1309fs RefSeq GRCh38/hg38
NM_000038 chr5:g.(112839518_112839519) c.(3925_3924) p.E1309fs RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.(112839518_112839519) c.(3925_3924) p.E1309fs RefSeq GRCh38/hg38
NM_000038.6 chr5:g.(112839518_112839519) c.(3925_3924) p.E1309fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112839518_112839519) c.(3925_3924) p.E1309fs RefSeq GRCh38/hg38
NM_001407471.1 chr5:g.(112840670_112840671) c.(3925_3924) p.E1309fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112839518_112839519) c.(3925_3924) p.E1309fs RefSeq GRCh38/hg38

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