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Gene APC
Variant R1171H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC R1171H lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). R1171H has been identified in sequencing studies (PMID: 1338691, PMID: 25886620), 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 R1171H

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Transcript NM_000038.6
gDNA chr5:g.112839106G>A
cDNA c.3512G>A
Protein p.R1171H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038.6 chr5:g.112839106G>A c.3512G>A p.R1171H RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839106G>A c.3512G>A p.R1171H RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839106G>A c.3512G>A p.R1171H RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839106G>A c.3512G>A p.R1171H RefSeq GRCh38/hg38
NM_001354905.1 chr5:g.112839585_112839587delAGAinsCAT c.3511_3513delAGAinsCAT p.R1171H RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839106G>A c.3512G>A p.R1171H RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839106G>A c.3512G>A p.R1171H RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839106G>A c.3512G>A p.R1171H RefSeq GRCh38/hg38
NM_001354905.2 chr5:g.112839585_112839587delAGAinsCAT c.3511_3513delAGAinsCAT p.R1171H RefSeq GRCh38/hg38
NM_000038 chr5:g.112839106G>A c.3512G>A p.R1171H RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839106G>A c.3512G>A p.R1171H RefSeq GRCh38/hg38

Filtering

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