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Gene | DNMT3A |
Variant | V636M |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | DNMT3A V636M lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). V636M results in decreased Dnmt3a stability and reduced methyltransferase activity in cell culture (PMID: 34429321), 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 V636M |
Transcript | NM_022552.5 |
gDNA | chr2:g.25243928C>T |
cDNA | c.1906G>A |
Protein | p.V636M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |