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Gene APC
Variant D1422H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC D1422H lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). D1422H has been identified in sequencing studies (PMID: 8221638), 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 D1422H

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Transcript NM_000038.6
gDNA chr5:g.112839858G>C
cDNA c.4264G>C
Protein p.D1422H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407446.1 chr5:g.112839774G>C c.4264G>C p.D1422H RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839858G>C c.4264G>C p.D1422H RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839858G>C c.4264G>C p.D1422H RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839858G>C c.4264G>C p.D1422H RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839858G>C c.4264G>C p.D1422H RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839858G>C c.4264G>C p.D1422H RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839858G>C c.4264G>C p.D1422H RefSeq GRCh38/hg38
NM_000038 chr5:g.112839858G>C c.4264G>C p.D1422H RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839858G>C c.4264G>C p.D1422H RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839858G>C c.4264G>C p.D1422H RefSeq GRCh38/hg38

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