APC S1278*
Gene Variant Detail

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Gene APC
Variant S1278*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC S1278* results in a premature truncation of the Apc protein at amino acid 1278 of 2843 (UniProt.org). S1278* has not been characterized, however, due to the effects of other truncation mutations downstream of S1278 (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 S1278*

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Transcript NM_000038.6
gDNA chr5:g.112839427C>A
cDNA c.3833C>A
Protein p.S1278*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407469.1 chr5:g.112839813_112839815delAGTinsTGA c.3832_3834delAGTinsTGA p.S1278* RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839427C>A c.3833C>A p.S1278* RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839427C>A c.3833C>A p.S1278* RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839427C>A c.3833C>A p.S1278* RefSeq GRCh38/hg38
NM_001354904.1 chr5:g.112839805_112839806delCCinsAA c.3833_3834delCCinsAA p.S1278* RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839427C>A c.3833C>A p.S1278* RefSeq GRCh38/hg38
NM_001407467.1 chr5:g.112839813_112839815delAGTinsTGA c.3832_3834delAGTinsTGA p.S1278* RefSeq GRCh38/hg38
NM_001354904.2 chr5:g.112839805_112839806delCCinsAA c.3833_3834delCCinsAA p.S1278* RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839427C>A c.3833C>A p.S1278* RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839427C>A c.3833C>A p.S1278* RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839427C>A c.3833C>A p.S1278* RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839427C>A c.3833C>A p.S1278* RefSeq GRCh38/hg38
NM_000038 chr5:g.112839427C>A c.3833C>A p.S1278* RefSeq GRCh38/hg38

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