Gene Variant Detail

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Gene APC
Variant G2502S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC G2502S lies within a region of the APC protein necessary for interaction with DLG1 (UniProt.org). G2502S has been identified in the scientific literature (PMID: 18612690, PMID: 24790607, PMID: 20233475), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

APC mutant APC G2502S

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Transcript NM_000038.6
gDNA chr5:g.112843098G>A
cDNA c.7504G>A
Protein p.G2502S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354895.1 chr5:g.112843098G>A c.7504G>A p.G2502S RefSeq GRCh38/hg38
NM_001127511 chr5:g.112843152_112843154delGGAinsAGC c.7504_7506delGGAinsAGC p.G2502S RefSeq GRCh38/hg38
NM_001127510 chr5:g.112843098G>A c.7504G>A p.G2502S RefSeq GRCh38/hg38
NM_000038 chr5:g.112843098G>A c.7504G>A p.G2502S RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112843098G>A c.7504G>A p.G2502S RefSeq GRCh38/hg38
NM_001127511.2 chr5:g.112843152_112843154delGGAinsAGC c.7504_7506delGGAinsAGC p.G2502S RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112843098G>A c.7504G>A p.G2502S RefSeq GRCh38/hg38
NM_001127511.3 chr5:g.112843152_112843154delGGAinsAGC c.7504_7506delGGAinsAGC p.G2502S RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112843098G>A c.7504G>A p.G2502S RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112843098G>A c.7504G>A p.G2502S RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112843098G>A c.7504G>A p.G2502S RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112843098G>A c.7504G>A p.G2502S RefSeq GRCh38/hg38

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