Gene Variant Detail

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Gene APC
Variant S1346*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC S1346* results in a premature truncation of the Apc protein at amino acid 1346 of 2843 (UniProt.org). S1346* has not been characterized, however, due to the effects of other truncation mutations downstream of S1346 (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 S1346*

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Transcript NM_000038.6
gDNA chr5:g.112839631C>A
cDNA c.4037C>A
Protein p.S1346*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354895.1 chr5:g.112839631C>A c.4037C>A p.S1346* RefSeq GRCh38/hg38
NM_001127511.2 chr5:g.112839684_112839686delAGTinsTGA c.4036_4038delAGTinsTGA p.S1346* RefSeq GRCh38/hg38
NM_001354898.1 chr5:g.112839705_112839707delAGTinsTGA c.4036_4038delAGTinsTGA p.S1346* RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839631C>A c.4037C>A p.S1346* RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839631C>A c.4037C>A p.S1346* RefSeq GRCh38/hg38
NM_001407472.1 chr5:g.112840783_112840784delCTinsAA c.4037_4038delCTinsAA p.S1346* RefSeq GRCh38/hg38
NM_001127511.3 chr5:g.112839684_112839686delAGTinsTGA c.4036_4038delAGTinsTGA p.S1346* RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839631C>A c.4037C>A p.S1346* RefSeq GRCh38/hg38
NM_001127511 chr5:g.112839684_112839686delAGTinsTGA c.4036_4038delAGTinsTGA p.S1346* RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839631C>A c.4037C>A p.S1346* RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839631C>A c.4037C>A p.S1346* RefSeq GRCh38/hg38
NM_000038 chr5:g.112839631C>A c.4037C>A p.S1346* RefSeq GRCh38/hg38
NM_001407471.1 chr5:g.112840783_112840784delCTinsAA c.4037_4038delCTinsAA p.S1346* RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839631C>A c.4037C>A p.S1346* RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839631C>A c.4037C>A p.S1346* RefSeq GRCh38/hg38
NM_001407452.1 chr5:g.112839661C>A c.4037C>A p.S1346* RefSeq GRCh38/hg38
NM_001354898.2 chr5:g.112839705_112839707delAGTinsTGA c.4036_4038delAGTinsTGA p.S1346* RefSeq GRCh38/hg38

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