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Gene | DNMT3A |
Variant | K841E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | DNMT3A K841E lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). K841E 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 K841E |
Transcript | NM_022552.5 |
gDNA | chr2:g.25235783T>C |
cDNA | c.2521A>G |
Protein | p.K841E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005264175.5 | chr2:g.25235783T>C | c.2521A>G | p.K841E | RefSeq | GRCh38/hg38 |
XM_017003526.2 | chr2:g.25235783T>C | c.2521A>G | p.K841E | RefSeq | GRCh38/hg38 |
XM_017003526 | chr2:g.25235783T>C | c.2521A>G | p.K841E | RefSeq | GRCh38/hg38 |
XM_005264175 | chr2:g.25235783T>C | c.2521A>G | p.K841E | RefSeq | GRCh38/hg38 |
XM_017003526.1 | chr2:g.25235783T>C | c.2521A>G | p.K841E | RefSeq | GRCh38/hg38 |
XM_005264175.6 | chr2:g.25235783T>C | c.2521A>G | p.K841E | RefSeq | GRCh38/hg38 |
NM_175629 | chr2:g.25235783T>C | c.2521A>G | p.K841E | RefSeq | GRCh38/hg38 |
NM_022552.5 | chr2:g.25235783T>C | c.2521A>G | p.K841E | RefSeq | GRCh38/hg38 |
NM_022552.4 | chr2:g.25235783T>C | c.2521A>G | p.K841E | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25235783T>C | c.2521A>G | p.K841E | RefSeq | GRCh38/hg38 |
NM_022552 | chr2:g.25235783T>C | c.2521A>G | p.K841E | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25235783T>C | c.2521A>G | p.K841E | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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