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Gene APC
Variant Q1469*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC Q1469* results in a premature truncation of the Apc protein at amino acid 1469 of 2843 (UniProt.org). Q1469* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1469 (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 Q1469*

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Transcript NM_000038.6
gDNA chr5:g.112839999C>T
cDNA c.4405C>T
Protein p.Q1469*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510 chr5:g.112839999C>T c.4405C>T p.Q1469* RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839999C>T c.4405C>T p.Q1469* RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839999C>T c.4405C>T p.Q1469* RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839999C>T c.4405C>T p.Q1469* RefSeq GRCh38/hg38
NM_000038 chr5:g.112839999C>T c.4405C>T p.Q1469* RefSeq GRCh38/hg38
NM_001354906.1 chr5:g.112840848C>T c.4405C>T p.Q1469* RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839999C>T c.4405C>T p.Q1469* RefSeq GRCh38/hg38
NM_001407470.1 chr5:g.112840848C>T c.4405C>T p.Q1469* RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839999C>T c.4405C>T p.Q1469* RefSeq GRCh38/hg38
NM_001354906.2 chr5:g.112840848C>T c.4405C>T p.Q1469* RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839999C>T c.4405C>T p.Q1469* RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839999C>T c.4405C>T p.Q1469* RefSeq GRCh38/hg38

Filtering

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Molecular Profile Protein Effect Treatment Approaches
APC Q1469* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor