Gene Variant Detail

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Gene APC
Variant S1215*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC S1215* results in a premature truncation of the Apc protein at amino acid 1215 of 2843 (UniProt.org). S1215* has not been characterized, however, due to the effects of other truncation mutations downstream of S1215 (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 S1215*

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Transcript NM_000038.6
gDNA chr5:g.112839237_112839239delAGTinsTGA
cDNA c.3643_3645delAGTinsTGA
Protein p.S1215*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407457.1 chr5:g.112839487_112839488delCTinsAA c.3644_3645delCTinsAA p.S1215* RefSeq GRCh38/hg38
NM_001354904.2 chr5:g.112839615_112839617delAGTinsTGA c.3643_3645delAGTinsTGA p.S1215* RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839237_112839239delAGTinsTGA c.3643_3645delAGTinsTGA p.S1215* RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839237_112839239delAGTinsTGA c.3643_3645delAGTinsTGA p.S1215* RefSeq GRCh38/hg38
NM_001354897.1 chr5:g.112839207_112839209delAGCinsTGA c.3643_3645delAGCinsTGA p.S1215* RefSeq GRCh38/hg38
NM_001407472.1 chr5:g.112840390C>A c.3644C>A p.S1215* RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839237_112839239delAGTinsTGA c.3643_3645delAGTinsTGA p.S1215* RefSeq GRCh38/hg38
NM_001354897.2 chr5:g.112839207_112839209delAGCinsTGA c.3643_3645delAGCinsTGA p.S1215* RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839237_112839239delAGTinsTGA c.3643_3645delAGTinsTGA p.S1215* RefSeq GRCh38/hg38
NM_001407451.1 chr5:g.112839259C>A c.3644C>A p.S1215* RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839237_112839239delAGTinsTGA c.3643_3645delAGTinsTGA p.S1215* RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839237_112839239delAGTinsTGA c.3643_3645delAGTinsTGA p.S1215* RefSeq GRCh38/hg38
NM_000038 chr5:g.112839237_112839239delAGTinsTGA c.3643_3645delAGTinsTGA p.S1215* RefSeq GRCh38/hg38
NM_001407454.1 chr5:g.112839487_112839488delCTinsAA c.3644_3645delCTinsAA p.S1215* RefSeq GRCh38/hg38
NM_001407469.1 chr5:g.112839625C>A c.3644C>A p.S1215* RefSeq GRCh38/hg38
NM_001407456.1 chr5:g.112839487_112839488delCTinsAA c.3644_3645delCTinsAA p.S1215* RefSeq GRCh38/hg38
NM_001354898.2 chr5:g.112839312_112839314delAGTinsTGA c.3643_3645delAGTinsTGA p.S1215* RefSeq GRCh38/hg38
NM_001354904.1 chr5:g.112839615_112839617delAGTinsTGA c.3643_3645delAGTinsTGA p.S1215* RefSeq GRCh38/hg38
NM_001354898.1 chr5:g.112839312_112839314delAGTinsTGA c.3643_3645delAGTinsTGA p.S1215* RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839237_112839239delAGTinsTGA c.3643_3645delAGTinsTGA p.S1215* RefSeq GRCh38/hg38
NM_001407455.1 chr5:g.112839487_112839488delCTinsAA c.3644_3645delCTinsAA p.S1215* RefSeq GRCh38/hg38
NM_001407471.1 chr5:g.112840390C>A c.3644C>A p.S1215* RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839237_112839239delAGTinsTGA c.3643_3645delAGTinsTGA p.S1215* RefSeq GRCh38/hg38
NM_001407467.1 chr5:g.112839625C>A c.3644C>A p.S1215* RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
APC S1215* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S1215* APC S1278*