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Gene APC
Variant L1302fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC L1302fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1302 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). L1302fs has not been characterized, however, due to the effects of truncation mutations downstream of L1302 (PMID: 10346819, PMID: 18199528), is predicted to lead to a loss of Apc protein function.
Associated Drug Resistance
Category Variants Paths

APC mutant APC inact mut APC L1302fs

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Transcript NM_000038.6
gDNA chr5:g.(112839497_112839498)
cDNA c.(3904_3903)
Protein p.L1302fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510 chr5:g.(112839497_112839498) c.(3904_3903) p.L1302fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112839497_112839498) c.(3904_3903) p.L1302fs RefSeq GRCh38/hg38
NM_001354902.2 chr5:g.(112839770_112839771) c.(3904_3903) p.L1302fs RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.(112839497_112839498) c.(3904_3903) p.L1302fs RefSeq GRCh38/hg38
NM_001354902.1 chr5:g.(112839770_112839771) c.(3904_3903) p.L1302fs RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.(112839497_112839498) c.(3904_3903) p.L1302fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112839497_112839498) c.(3904_3903) p.L1302fs RefSeq GRCh38/hg38
NM_000038.6 chr5:g.(112839497_112839498) c.(3904_3903) p.L1302fs RefSeq GRCh38/hg38
NM_000038 chr5:g.(112839497_112839498) c.(3904_3903) p.L1302fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112839497_112839498) c.(3904_3903) p.L1302fs RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.(112839497_112839498) c.(3904_3903) p.L1302fs RefSeq GRCh38/hg38

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