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Gene | DNMT3A |
Variant | R771G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | DNMT3A R771G lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R771G results in increased methylation of non-CpG substrates (PMID: 30705090) but reduced methylation of CpG substrates relative to wild-type in in vitro assays in one study (PMID: 30705090), and increased methylation of a CpG substrate in an in vitro assay in another study (PMID: 33826797), and therefore, its effect on Dnmt3a protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
DNMT3A mutant DNMT3A R771G |
Transcript | NM_022552.5 |
gDNA | chr2:g.25240313G>C |
cDNA | c.2311C>G |
Protein | p.R771G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017003526.1 | chr2:g.25240313G>C | c.2311C>G | p.R771G | RefSeq | GRCh38/hg38 |
XM_011532664 | chr2:g.25240313G>C | c.2311C>G | p.R771G | RefSeq | GRCh38/hg38 |
XM_017003526 | chr2:g.25240313G>C | c.2311C>G | p.R771G | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25240313G>C | c.2311C>G | p.R771G | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25240313G>C | c.2311C>G | p.R771G | RefSeq | GRCh38/hg38 |
NM_022552.5 | chr2:g.25240313G>C | c.2311C>G | p.R771G | RefSeq | GRCh38/hg38 |
XM_047443593.1 | chr2:g.25240313G>C | c.2311C>G | p.R771G | RefSeq | GRCh38/hg38 |
NM_175629 | chr2:g.25240313G>C | c.2311C>G | p.R771G | RefSeq | GRCh38/hg38 |
XM_011532664.3 | chr2:g.25240313G>C | c.2311C>G | p.R771G | RefSeq | GRCh38/hg38 |
XM_017003526.2 | chr2:g.25240313G>C | c.2311C>G | p.R771G | RefSeq | GRCh38/hg38 |
NM_022552 | chr2:g.25240313G>C | c.2311C>G | p.R771G | RefSeq | GRCh38/hg38 |
XM_005264175 | chr2:g.25240313G>C | c.2311C>G | p.R771G | RefSeq | GRCh38/hg38 |
XM_005264175.5 | chr2:g.25240313G>C | c.2311C>G | p.R771G | RefSeq | GRCh38/hg38 |
NM_022552.4 | chr2:g.25240313G>C | c.2311C>G | p.R771G | RefSeq | GRCh38/hg38 |
XM_011532664.2 | chr2:g.25240313G>C | c.2311C>G | p.R771G | RefSeq | GRCh38/hg38 |
XM_005264175.6 | chr2:g.25240313G>C | c.2311C>G | p.R771G | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
DNMT3A R771G | unknown |