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Gene APC
Variant L1488*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC L1488* results in a premature truncation of the Apc protein at amino acid 1488 of 2843 (UniProt.org). L1488* has not been characterized, however, due to the effects of other truncation mutations downstream of L1488 (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 L1488*

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Transcript NM_000038.6
gDNA chr5:g.112840057T>A
cDNA c.4463T>A
Protein p.L1488*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127511.2 chr5:g.112840110_112840111delCTinsTA c.4462_4463delCTinsTA p.L1488* RefSeq GRCh38/hg38
NM_001407469.1 chr5:g.112840443_112840445delCTTinsTAA c.4462_4464delCTTinsTAA p.L1488* RefSeq GRCh38/hg38
NM_001127510 chr5:g.112840057T>A c.4463T>A p.L1488* RefSeq GRCh38/hg38
NM_001127511.3 chr5:g.112840110_112840111delCTinsTA c.4462_4463delCTinsTA p.L1488* RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112840057T>A c.4463T>A p.L1488* RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112840057T>A c.4463T>A p.L1488* RefSeq GRCh38/hg38
NM_001127511 chr5:g.112840110_112840111delCTinsTA c.4462_4463delCTinsTA p.L1488* RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112840057T>A c.4463T>A p.L1488* RefSeq GRCh38/hg38
NM_001407467.1 chr5:g.112840443_112840445delCTTinsTAA c.4462_4464delCTTinsTAA p.L1488* RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112840057T>A c.4463T>A p.L1488* RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112840057T>A c.4463T>A p.L1488* RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112840057T>A c.4463T>A p.L1488* RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112840057T>A c.4463T>A p.L1488* RefSeq GRCh38/hg38
NM_000038 chr5:g.112840057T>A c.4463T>A p.L1488* RefSeq GRCh38/hg38

Filtering

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  • 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 L1488* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor