APC S2270F
Gene Variant Detail

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Gene APC
Variant S2270F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC S2270F does not lie within any known functional domains of the Apc protein (UniProt.org). S2270F has been identified in sequencing studies (PMID: 38887977), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, May 2026).
Associated Drug Resistance
Category Variants Paths

APC mutant APC S2270F

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Transcript NM_000038.6
gDNA chr5:g.112842403C>T
cDNA c.6809C>T
Protein p.S2270F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407446.1 chr5:g.112842318_112842319delAGinsTT c.6808_6809delAGinsTT p.S2270F RefSeq GRCh38/hg38
NM_001354897.2 chr5:g.112842372_112842373delAGinsTT c.6808_6809delAGinsTT p.S2270F RefSeq GRCh38/hg38
NM_001354904.2 chr5:g.112842781C>T c.6809C>T p.S2270F RefSeq GRCh38/hg38
NM_001407451.1 chr5:g.112842424C>T c.6809C>T p.S2270F RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112842403C>T c.6809C>T p.S2270F RefSeq GRCh38/hg38
NM_001407452.1 chr5:g.112842433_112842434delCAinsTT c.6809_6810delCAinsTT p.S2270F RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112842403C>T c.6809C>T p.S2270F RefSeq GRCh38/hg38
NM_001354902.2 chr5:g.112842676C>T c.6809C>T p.S2270F RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112842403C>T c.6809C>T p.S2270F RefSeq GRCh38/hg38
NM_001354898.2 chr5:g.112842478_112842479delCAinsTT c.6809_6810delCAinsTT p.S2270F RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112842403C>T c.6809C>T p.S2270F RefSeq GRCh38/hg38

Filtering

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