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Gene | DNMT3A |
Variant | P777R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | DNMT3A P777R lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). P777R (corresponds to P773R in mouse) retains DNA-binding ability but results in decreased methylation activity in in vitro assays (PMID: 31861499), 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 P777R |
Transcript | NM_022552.5 |
gDNA | chr2:g.25239208G>C |
cDNA | c.2330C>G |
Protein | p.P777R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017003526.1 | chr2:g.25239208G>C | c.2330C>G | p.P777R | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25239208G>C | c.2330C>G | p.P777R | RefSeq | GRCh38/hg38 |
XM_017003526.2 | chr2:g.25239208G>C | c.2330C>G | p.P777R | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25239208G>C | c.2330C>G | p.P777R | RefSeq | GRCh38/hg38 |
XM_047443593.1 | chr2:g.25239208G>C | c.2330C>G | p.P777R | RefSeq | GRCh38/hg38 |
NM_022552.4 | chr2:g.25239208G>C | c.2330C>G | p.P777R | RefSeq | GRCh38/hg38 |
NM_022552.5 | chr2:g.25239208G>C | c.2330C>G | p.P777R | RefSeq | GRCh38/hg38 |
XM_005264175.6 | chr2:g.25239208G>C | c.2330C>G | p.P777R | RefSeq | GRCh38/hg38 |
XM_005264175.5 | chr2:g.25239208G>C | c.2330C>G | p.P777R | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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