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Gene APC
Variant Y1376fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC Y1376fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1376 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). Y1376fs has not been characterized, however, due to the effects of other truncation mutations downstream of Y1376 (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 Y1376fs

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Transcript NM_000038.6
gDNA chr5:g.(112839719_112839720)
cDNA c.(4126_4125)
Protein p.Y1376fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038 chr5:g.(112839719_112839720) c.(4126_4125) p.Y1376fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112839719_112839720) c.(4126_4125) p.Y1376fs RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.(112839719_112839720) c.(4126_4125) p.Y1376fs RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.(112839719_112839720) c.(4126_4125) p.Y1376fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112839719_112839720) c.(4126_4125) p.Y1376fs RefSeq GRCh38/hg38
NM_000038.6 chr5:g.(112839719_112839720) c.(4126_4125) p.Y1376fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112839719_112839720) c.(4126_4125) p.Y1376fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112839719_112839720) c.(4126_4125) p.Y1376fs RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.(112839719_112839720) c.(4126_4125) p.Y1376fs 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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Molecular Profile Protein Effect Treatment Approaches
APC Y1376fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor