Gene Variant Detail

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Gene APC
Variant G2502S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC G2502S does not lie within any known functional domains of the Apc protein (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, Feb 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_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_001354895.2 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_001127510.3 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
NM_001407450.1 chr5:g.112843098G>A c.7504G>A 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_001127511 chr5:g.112843152_112843154delGGAinsAGC c.7504_7506delGGAinsAGC p.G2502S RefSeq GRCh38/hg38
NM_001127511.3 chr5:g.112843152_112843154delGGAinsAGC c.7504_7506delGGAinsAGC p.G2502S RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112843098G>A c.7504G>A p.G2502S RefSeq GRCh38/hg38

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