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Gene APC
Variant T829Sfs*14
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC T829Sfs*14 indicates a shift in the reading frame starting at amino acid 829 and terminating 14 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). T829Sfs*14 has not been characterized, however, due to the effects of other truncation mutations downstream of T829 (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 T829Sfs*14

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Transcript NM_000038.6
gDNA chr5:g.112838080_112838081delCA
cDNA c.2486_2487delCA
Protein p.T829Sfs*14
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510.3 chr5:g.112838080_112838081delCA c.2486_2487delCA p.T829Sfs*14 RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112838080_112838081delCA c.2486_2487delCA p.T829Sfs*14 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112838080_112838081delCA c.2486_2487delCA p.T829Sfs*14 RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112838080_112838081delCA c.2486_2487delCA p.T829Sfs*14 RefSeq GRCh38/hg38

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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 T829Sfs*14 loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor