APC A1914*
Gene Variant Detail

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Gene APC
Variant A1914*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC A1914* results in a premature truncation of the Apc protein at amino acid 1914 of 2843 (UniProt.org). A1914* results in reduced suppression of beta-catenin activity in a reporter assay (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 A1914*

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Transcript NM_000038.6
gDNA chr5:g.112841334_112841335delGCinsTA
cDNA c.5740_5741delGCinsTA
Protein p.A1914*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407450.1 chr5:g.112841334_112841335delGCinsTA c.5740_5741delGCinsTA p.A1914* RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112841334_112841335delGCinsTA c.5740_5741delGCinsTA p.A1914* RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112841334_112841335delGCinsTA c.5740_5741delGCinsTA p.A1914* RefSeq GRCh38/hg38
NM_001354900.1 chr5:g.112841457_112841459delGCTinsTAA c.5740_5742delGCTinsTAA p.A1914* RefSeq GRCh38/hg38
NM_001407472.1 chr5:g.112842486_112842487delGCinsTA c.5740_5741delGCinsTA p.A1914* RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112841334_112841335delGCinsTA c.5740_5741delGCinsTA p.A1914* RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112841334_112841335delGCinsTA c.5740_5741delGCinsTA p.A1914* RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112841334_112841335delGCinsTA c.5740_5741delGCinsTA p.A1914* RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112841334_112841335delGCinsTA c.5740_5741delGCinsTA p.A1914* RefSeq GRCh38/hg38
NM_001354900.2 chr5:g.112841457_112841459delGCTinsTAA c.5740_5742delGCTinsTAA p.A1914* RefSeq GRCh38/hg38
NM_001407471.1 chr5:g.112842486_112842487delGCinsTA c.5740_5741delGCinsTA p.A1914* RefSeq GRCh38/hg38
NM_000038 chr5:g.112841334_112841335delGCinsTA c.5740_5741delGCinsTA p.A1914* RefSeq GRCh38/hg38
NM_001127510 chr5:g.112841334_112841335delGCinsTA c.5740_5741delGCinsTA p.A1914* RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References