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Gene DNMT3A
Variant R792H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions DNMT3A R792H lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R792H results in decreased Dnmt3a enzymatic activity, reduced cytosine methylation in the presence of wild-type Dnmt3a, and cytokine-independent growth in cell culture (PMID: 29414941).
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A inact mut DNMT3A R792H

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Transcript NM_022552.5
gDNA chr2:g.25239163C>T
cDNA c.2375G>A
Protein p.R792H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_022552.5 chr2:g.25239163C>T c.2375G>A p.R792H RefSeq GRCh38/hg38
XM_017003526 chr2:g.25239163C>T c.2375G>A p.R792H RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25239163C>T c.2375G>A p.R792H RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25239163C>T c.2375G>A p.R792H RefSeq GRCh38/hg38
XM_005264175 chr2:g.25239163C>T c.2375G>A p.R792H RefSeq GRCh38/hg38
XM_047443592.1 chr2:g.25234345_25234346delGGinsAT c.2375_2376delGGinsAT p.R792H RefSeq GRCh38/hg38
XM_047443593.1 chr2:g.25239163C>T c.2375G>A p.R792H RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25239163C>T c.2375G>A p.R792H RefSeq GRCh38/hg38
NM_022552.4 chr2:g.25239163C>T c.2375G>A p.R792H RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25239163C>T c.2375G>A p.R792H RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25239163C>T c.2375G>A p.R792H RefSeq GRCh38/hg38
NM_175629 chr2:g.25239163C>T c.2375G>A p.R792H RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25239163C>T c.2375G>A p.R792H RefSeq GRCh38/hg38
NM_022552 chr2:g.25239163C>T c.2375G>A p.R792H RefSeq GRCh38/hg38

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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