Gene Variant Detail

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Gene APC
Variant S1400*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC S1400* results in a premature truncation of the Apc protein at amino acid 1400 of 2843 (UniProt.org). S1400* has not been characterized, however, due to the effects of other truncation mutations downstream of S1400 (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 S1400*

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Transcript NM_000038.6
gDNA chr5:g.112839793C>A
cDNA c.4199C>A
Protein p.S1400*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354895.1 chr5:g.112839793C>A c.4199C>A p.S1400* RefSeq GRCh38/hg38
NM_001407451.1 chr5:g.112839813_112839815delAGTinsTGA c.4198_4200delAGTinsTGA p.S1400* RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839793C>A c.4199C>A p.S1400* RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839793C>A c.4199C>A p.S1400* RefSeq GRCh38/hg38
NM_001407458.1 chr5:g.112840096_112840097delCTinsAA c.4199_4200delCTinsAA p.S1400* RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839793C>A c.4199C>A p.S1400* RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839793C>A c.4199C>A p.S1400* RefSeq GRCh38/hg38
NM_001354903.1 chr5:g.112840096_112840097delCTinsAA c.4199_4200delCTinsAA p.S1400* RefSeq GRCh38/hg38
NM_000038 chr5:g.112839793C>A c.4199C>A p.S1400* RefSeq GRCh38/hg38
NM_001407460.1 chr5:g.112840096_112840097delCTinsAA c.4199_4200delCTinsAA p.S1400* RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839793C>A c.4199C>A p.S1400* RefSeq GRCh38/hg38
NM_001407459.1 chr5:g.112840096_112840097delCTinsAA c.4199_4200delCTinsAA p.S1400* RefSeq GRCh38/hg38
NM_001354903.2 chr5:g.112840096_112840097delCTinsAA c.4199_4200delCTinsAA p.S1400* RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839793C>A c.4199C>A p.S1400* RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839793C>A c.4199C>A p.S1400* RefSeq GRCh38/hg38

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