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Gene APC
Variant C1387fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC C1387fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1387 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). C1387fs has not been characterized, however, due to the effects of other truncation mutations downstream of C1387 (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 C1387fs

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Transcript NM_000038.6
gDNA chr5:g.(112839752_112839753)
cDNA c.(4159_4158)
Protein p.C1387fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038 chr5:g.(112839752_112839753) c.(4159_4158) p.C1387fs RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.(112839752_112839753) c.(4159_4158) p.C1387fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112839752_112839753) c.(4159_4158) p.C1387fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112839752_112839753) c.(4159_4158) p.C1387fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112839752_112839753) c.(4159_4158) p.C1387fs RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.(112839752_112839753) c.(4159_4158) p.C1387fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112839752_112839753) c.(4159_4158) p.C1387fs RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.(112839752_112839753) c.(4159_4158) p.C1387fs RefSeq GRCh38/hg38
NM_000038.6 chr5:g.(112839752_112839753) c.(4159_4158) p.C1387fs RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Protein Effect Treatment Approaches
APC C1387fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor