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Gene DNMT3A
Variant R836A
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions DNMT3A R836A lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R836A demonstrates methylation activity similar to wild-type protein in a chimeric Dnmt3a catalytic domain construct in an in vitro assay (PMID: 33826797), but results in altered substrate specificity leading to decreased CpG site methylation and increased non-CpG site methylation in in vitro assays and in cell culture (PMID: 29414941), and therefore, is predicted to lead to a loss of Dnmt3a protein function.
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A inact mut DNMT3A R836A

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Transcript NM_022552.5
gDNA chr2:g.25235797_25235798delAGinsGC
cDNA c.2506_2507delAGinsGC
Protein p.R836A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_022552.4 chr2:g.25235797_25235798delAGinsGC c.2506_2507delAGinsGC p.R836A RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25235797_25235798delAGinsGC c.2506_2507delAGinsGC p.R836A RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25235797_25235798delAGinsGC c.2506_2507delAGinsGC p.R836A RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25235797_25235798delAGinsGC c.2506_2507delAGinsGC p.R836A RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25235797_25235798delAGinsGC c.2506_2507delAGinsGC p.R836A RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25235797_25235798delAGinsGC c.2506_2507delAGinsGC p.R836A RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25235797_25235798delAGinsGC c.2506_2507delAGinsGC p.R836A RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25235797_25235798delAGinsGC c.2506_2507delAGinsGC p.R836A RefSeq GRCh38/hg38
XM_011532662.3 chr2:g.25234364_25234365delAGinsGC c.2506_2507delAGinsGC p.R836A RefSeq GRCh38/hg38

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