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 | Q615* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | DNMT3A Q615* results in a premature truncation of the Dnmt3a protein at amino acid 615 of 912 (UniProt.org). Q615* confers a loss of function to the Dnmt3a protein as demonstrated by impaired myelomonocytic cell differentiation, colony formation, and methyltransferase activity in cell culture (PMID: 26595813). |
Associated Drug Resistance | |
Category Variants Paths |
DNMT3A mutant DNMT3A inact mut DNMT3A Q615* |
Transcript | NM_022552.5 |
gDNA | chr2:g.25244163G>A |
cDNA | c.1843C>T |
Protein | p.Q615* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_175629 | chr2:g.25244163G>A | c.1843C>T | p.Q615* | RefSeq | GRCh38/hg38 |
XM_017003526.1 | chr2:g.25244163G>A | c.1843C>T | p.Q615* | RefSeq | GRCh38/hg38 |
XM_017003526.2 | chr2:g.25244163G>A | c.1843C>T | p.Q615* | RefSeq | GRCh38/hg38 |
XM_011532664.3 | chr2:g.25244163G>A | c.1843C>T | p.Q615* | RefSeq | GRCh38/hg38 |
NM_022552.4 | chr2:g.25244163G>A | c.1843C>T | p.Q615* | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25244163G>A | c.1843C>T | p.Q615* | RefSeq | GRCh38/hg38 |
XM_011532664.2 | chr2:g.25244163G>A | c.1843C>T | p.Q615* | RefSeq | GRCh38/hg38 |
NM_022552 | chr2:g.25244163G>A | c.1843C>T | p.Q615* | RefSeq | GRCh38/hg38 |
XM_047443593.1 | chr2:g.25244163G>A | c.1843C>T | p.Q615* | RefSeq | GRCh38/hg38 |
XM_005264175 | chr2:g.25244163G>A | c.1843C>T | p.Q615* | RefSeq | GRCh38/hg38 |
NM_022552.5 | chr2:g.25244163G>A | c.1843C>T | p.Q615* | RefSeq | GRCh38/hg38 |
XM_005264175.5 | chr2:g.25244163G>A | c.1843C>T | p.Q615* | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25244163G>A | c.1843C>T | p.Q615* | RefSeq | GRCh38/hg38 |
XM_017003526 | chr2:g.25244163G>A | c.1843C>T | p.Q615* | RefSeq | GRCh38/hg38 |
XM_011532664 | chr2:g.25244163G>A | c.1843C>T | p.Q615* | RefSeq | GRCh38/hg38 |
XM_005264175.6 | chr2:g.25244163G>A | c.1843C>T | p.Q615* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|