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Gene APC
Variant P950Afs*13
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC P950Afs*13 indicates a shift in the reading frame starting at amino acid 950 and terminating 13 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). P950Afs*13 has not been characterized, however, due to the effects of other truncation mutations downstream of P950 (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 P950Afs*13

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Transcript NM_000038.6
gDNA chr5:g.112838441dupG
cDNA c.2847dupG
Protein p.P950Afs*13
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038 chr5:g.112838441dupG c.2847dupG p.P950Afs*13 RefSeq GRCh38/hg38
NM_001354904.2 chr5:g.112838819_112838820insGCCCCCCCCCCCCCCCCCCCCCCAA c.2847_2848insGCCCCCCCCCCCCCCCCCCCCCCAA p.P950Afs*13 RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112838441dupG c.2847dupG p.P950Afs*13 RefSeq GRCh38/hg38
NM_001354906.1 chr5:g.112839290_112839291insGCCCCCCCCCCCCCCCCAA c.2847_2848insGCCCCCCCCCCCCCCCCAA p.P950Afs*13 RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112838441dupG c.2847dupG p.P950Afs*13 RefSeq GRCh38/hg38
NM_001127510 chr5:g.112838441dupG c.2847dupG p.P950Afs*13 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112838441dupG c.2847dupG p.P950Afs*13 RefSeq GRCh38/hg38
NM_001354906.2 chr5:g.112839290_112839291insGCCCCCCCCCCCCCCCCAA c.2847_2848insGCCCCCCCCCCCCCCCCAA p.P950Afs*13 RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112838441dupG c.2847dupG p.P950Afs*13 RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112838441dupG c.2847dupG p.P950Afs*13 RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112838441dupG c.2847dupG p.P950Afs*13 RefSeq GRCh38/hg38
NM_001407470.1 chr5:g.112839290_112839291insGCCCCCCCCCCCCCCCCAA c.2847_2848insGCCCCCCCCCCCCCCCCAA p.P950Afs*13 RefSeq GRCh38/hg38
NM_001354904.1 chr5:g.112838819_112838820insGCCCCCCCCCCCCCCCCCCCCCCAA c.2847_2848insGCCCCCCCCCCCCCCCCCCCCCCAA p.P950Afs*13 RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112838441dupG c.2847dupG p.P950Afs*13 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 )
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  • 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 P950Afs*13 loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor