Gene Variant Detail

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Gene APC
Variant S1197*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC S1197* results in a premature truncation of the Apc protein at amino acid 1197 of 2843 (UniProt.org). S1197* has not been characterized, however, due to the effects of other truncation mutations downstream of S1197 (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 S1197*

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Transcript NM_001127511.3
gDNA chr5:g.112839237_112839239delAGTinsTGA
cDNA c.3589_3591delAGTinsTGA
Protein p.S1197*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354900.1 chr5:g.112839306_112839308delAGTinsTGA c.3589_3591delAGTinsTGA p.S1197* RefSeq GRCh38/hg38
NM_001407472.1 chr5:g.112840336_112840337delCTinsAA c.3590_3591delCTinsAA p.S1197* RefSeq GRCh38/hg38
NM_001354900.2 chr5:g.112839306_112839308delAGTinsTGA c.3589_3591delAGTinsTGA p.S1197* RefSeq GRCh38/hg38
NM_001354898.1 chr5:g.112839259C>A c.3590C>A p.S1197* RefSeq GRCh38/hg38
NM_001354903.2 chr5:g.112839487_112839488delCTinsAA c.3590_3591delCTinsAA p.S1197* RefSeq GRCh38/hg38
NM_001354903.1 chr5:g.112839487_112839488delCTinsAA c.3590_3591delCTinsAA p.S1197* RefSeq GRCh38/hg38
NM_001354898.2 chr5:g.112839259C>A c.3590C>A p.S1197* RefSeq GRCh38/hg38
NM_001407460.1 chr5:g.112839487_112839488delCTinsAA c.3590_3591delCTinsAA p.S1197* RefSeq GRCh38/hg38
NM_001407471.1 chr5:g.112840336_112840337delCTinsAA c.3590_3591delCTinsAA p.S1197* RefSeq GRCh38/hg38
NM_001127511.3 chr5:g.112839237_112839239delAGTinsTGA c.3589_3591delAGTinsTGA p.S1197* RefSeq GRCh38/hg38
NM_001127511.2 chr5:g.112839237_112839239delAGTinsTGA c.3589_3591delAGTinsTGA p.S1197* RefSeq GRCh38/hg38
NM_001407459.1 chr5:g.112839487_112839488delCTinsAA c.3590_3591delCTinsAA p.S1197* RefSeq GRCh38/hg38
NM_001127511 chr5:g.112839237_112839239delAGTinsTGA c.3589_3591delAGTinsTGA p.S1197* RefSeq GRCh38/hg38
NM_001407458.1 chr5:g.112839487_112839488delCTinsAA c.3590_3591delCTinsAA p.S1197* RefSeq GRCh38/hg38

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