APC G1116Efs*6 - Gene Variant Detail

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Gene APC
Variant G1116Efs*6
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC G1116Efs*6 indicates a shift in the reading frame starting at amino acid 1116 and terminating 6 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). G1116Efs*6 has not been characterized, however, due to the effects of other truncation mutations downstream of G1116 (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 G1116Efs*6

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Transcript NM_000038.6
gDNA chr5:g.112838940_112838941insACCCCCCAAA
cDNA c.3346_3347insACCCCCCAAA
Protein p.G1116Efs*6
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038.6 chr5:g.112838940_112838941insACCCCCCAAA c.3346_3347insACCCCCCAAA p.G1116Efs*6 RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112838940_112838941insACCCCCCAAA c.3346_3347insACCCCCCAAA p.G1116Efs*6 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112838940_112838941insACCCCCCAAA c.3346_3347insACCCCCCAAA p.G1116Efs*6 RefSeq GRCh38/hg38
NM_001354897.2 chr5:g.112838910_112838911insACCCCCCCCCCCCAT c.3346_3347insACCCCCCCCCCCCAT p.G1116Efs*6 RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112838940_112838941insACCCCCCAAA c.3346_3347insACCCCCCAAA p.G1116Efs*6 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")

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Molecular Profile Protein Effect Treatment Approaches
APC G1116Efs*6 loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor