Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | DNMT3A |
Variant | R771P |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | DNMT3A R771P lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R771P results in reduced methylation of both CpG and non-CpG substrates in an in vitro assay (PMID: 30705090), 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 R771P |
Transcript | NM_022552.5 |
gDNA | chr2:g.25240312C>G |
cDNA | c.2312G>C |
Protein | p.R771P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011532664.3 | chr2:g.25240312C>G | c.2312G>C | p.R771P | RefSeq | GRCh38/hg38 |
XM_005264175 | chr2:g.25240312C>G | c.2312G>C | p.R771P | RefSeq | GRCh38/hg38 |
XM_005264175.5 | chr2:g.25240312C>G | c.2312G>C | p.R771P | RefSeq | GRCh38/hg38 |
XM_017003526 | chr2:g.25240312C>G | c.2312G>C | p.R771P | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25240312C>G | c.2312G>C | p.R771P | RefSeq | GRCh38/hg38 |
NM_022552.4 | chr2:g.25240312C>G | c.2312G>C | p.R771P | RefSeq | GRCh38/hg38 |
XM_017003526.1 | chr2:g.25240312C>G | c.2312G>C | p.R771P | RefSeq | GRCh38/hg38 |
XM_005264175.6 | chr2:g.25240312C>G | c.2312G>C | p.R771P | RefSeq | GRCh38/hg38 |
XM_047443593.1 | chr2:g.25240312C>G | c.2312G>C | p.R771P | RefSeq | GRCh38/hg38 |
XM_017003526.2 | chr2:g.25240312C>G | c.2312G>C | p.R771P | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25240312C>G | c.2312G>C | p.R771P | RefSeq | GRCh38/hg38 |
NM_022552 | chr2:g.25240312C>G | c.2312G>C | p.R771P | RefSeq | GRCh38/hg38 |
XM_011532664 | chr2:g.25240312C>G | c.2312G>C | p.R771P | RefSeq | GRCh38/hg38 |
NM_022552.5 | chr2:g.25240312C>G | c.2312G>C | p.R771P | RefSeq | GRCh38/hg38 |
XM_011532664.2 | chr2:g.25240312C>G | c.2312G>C | p.R771P | RefSeq | GRCh38/hg38 |
NM_175629 | chr2:g.25240312C>G | c.2312G>C | p.R771P | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|