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Gene APC
Variant R1450*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC R1450* results in a premature truncation of the Apc protein at amino acid 1450 of 2843 (UniProt.org). R1450* results in reduced suppression of beta-catenin activity in culture (PMID: 18199528), and therefore, is predicted to lead to a loss of Apc protein function.
Associated Drug Resistance
Category Variants Paths

APC mutant APC inact mut APC R1450*

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Transcript NM_000038.6
gDNA chr5:g.112839942C>T
cDNA c.4348C>T
Protein p.R1450*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038.5 chr5:g.112839942C>T c.4348C>T p.R1450* RefSeq GRCh38/hg38
NM_001354899.2 chr5:g.112840026_112840027delAGinsTA c.4348_4349delAGinsTA p.R1450* RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839942C>T c.4348C>T p.R1450* RefSeq GRCh38/hg38
NM_000038 chr5:g.112839942C>T c.4348C>T p.R1450* RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839942C>T c.4348C>T p.R1450* RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839942C>T c.4348C>T p.R1450* RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839942C>T c.4348C>T p.R1450* RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839942C>T c.4348C>T p.R1450* RefSeq GRCh38/hg38
NM_001354899.1 chr5:g.112840026_112840027delAGinsTA c.4348_4349delAGinsTA p.R1450* RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839942C>T c.4348C>T p.R1450* RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839942C>T c.4348C>T p.R1450* RefSeq GRCh38/hg38

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Molecular Profile Protein Effect Treatment Approaches
APC R1450* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC L665* APC R1450*
APC R1450* APC LOH
APC L665Ifs*8 APC R1450*