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Gene DNMT3A
Variant R478Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions DNMT3A R478Q does not lie within any known functional domains of the Dnmt3a protein (UniProt.org). R478Q has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A R478Q

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Transcript NM_022552.5
gDNA chr2:g.25246061C>T
cDNA c.1433G>A
Protein p.R478Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047443593.1 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
NM_175629 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
XM_005264175 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
XM_017003526 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
XM_011532664 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
NM_022552 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
NM_022552.4 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
XM_011532664.2 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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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
DNMT3A mutant acute myeloid leukemia sensitive Pinometostat Preclinical - Cell line xenograft Actionable In a preclinical study, Pinometostat (EPZ-5676) treatment of acute myeloid leukemia cell lines and xenografts resulted in apoptosis, cell-cycle arrest, and terminal differentiation (PMID: 27335278). 27335278
DNMT3A mutant acute myeloid leukemia resistant Olaparib Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia cells harboring a DNMT3A mutation along with FLT3-ITD and NPM1 mutation were resistant to Lynparza (olaparib) in culture (PMID: 34215619). 34215619
DNMT3A mutant myelofibrosis not applicable N/A Guideline Prognostic DNMT3A mutations are associated with inferior overall survival in patients with primary myelofibrosis (NCCN.org). detail...
DNMT3A mutant angioimmunoblastic T-cell lymphoma not applicable N/A Guideline Diagnostic DNMT3A mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org). detail...
DNMT3A mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, mutations in DNMT3A were associated with poor prognosis and shorter overall survival in patients with acute myeloid leukemia (PMID: 22490330, PMID: 21881046, PMID: 21670448). 22490330 21881046 21670448
DNMT3A mutant acute myeloid leukemia predicted - sensitive Decitabine Clinical Study - Cohort Actionable In a clinical study, acute myeloid leukemia patients harboring DNMT3A mutations demonstrated a greater complete response rate (60% vs 33%) compared to patients with wild-type DNMT3A when treated with frontline hypomethylating agents such as Dacogen (decitabine) (PMID: 27418649). 27418649