Gene Variant Detail

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Gene APC
Variant G1120E
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions APC G1120E lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). G1120E inhibits beta-catenin mediated transcription at a level similar to wild-type Apc in a yeast assay (PMID: 14633595), and therefore, is predicted to have no effect on Apc protein function.
Associated Drug Resistance
Category Variants Paths

APC mutant APC G1120E

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Transcript NM_000038.6
gDNA chr5:g.112838953G>A
cDNA c.3359G>A
Protein p.G1120E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038.5 chr5:g.112838953G>A c.3359G>A p.G1120E RefSeq GRCh38/hg38
NM_000038 chr5:g.112838953G>A c.3359G>A p.G1120E RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112838953G>A c.3359G>A p.G1120E RefSeq GRCh38/hg38
NM_001407454.1 chr5:g.112839202G>A c.3359G>A p.G1120E RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112838953G>A c.3359G>A p.G1120E RefSeq GRCh38/hg38
NM_001407455.1 chr5:g.112839202G>A c.3359G>A p.G1120E RefSeq GRCh38/hg38
NM_001407457.1 chr5:g.112839202G>A c.3359G>A p.G1120E RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112838953G>A c.3359G>A p.G1120E RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112838953G>A c.3359G>A p.G1120E RefSeq GRCh38/hg38
NM_001407456.1 chr5:g.112839202G>A c.3359G>A p.G1120E RefSeq GRCh38/hg38
NM_001127510 chr5:g.112838953G>A c.3359G>A p.G1120E RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112838953G>A c.3359G>A p.G1120E RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112838953G>A c.3359G>A p.G1120E RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries