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Gene APC
Variant N1300fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC N1300fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1300 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). N1300fs has not been characterized, however, due to the effects of other truncation mutations downstream of N1300 (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 N1300fs

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Transcript NM_000038.6
gDNA chr5:g.(112839491_112839492)
cDNA c.(3898_3897)
Protein p.N1300fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354895.2 chr5:g.(112839491_112839492) c.(3898_3897) p.N1300fs RefSeq GRCh38/hg38
NM_000038 chr5:g.(112839491_112839492) c.(3898_3897) p.N1300fs RefSeq GRCh38/hg38
NM_000038.6 chr5:g.(112839491_112839492) c.(3898_3897) p.N1300fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112839491_112839492) c.(3898_3897) p.N1300fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112839491_112839492) c.(3898_3897) p.N1300fs RefSeq GRCh38/hg38
NM_001354897.2 chr5:g.(112839461_112839462) c.(3898_3897) p.N1300fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112839491_112839492) c.(3898_3897) p.N1300fs RefSeq GRCh38/hg38
NM_001354897.1 chr5:g.(112839461_112839462) c.(3898_3897) p.N1300fs RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.(112839491_112839492) c.(3898_3897) p.N1300fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112839491_112839492) c.(3898_3897) p.N1300fs RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.(112839491_112839492) c.(3898_3897) p.N1300fs RefSeq GRCh38/hg38

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