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Gene | DNMT3A |
Variant | I643M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | DNMT3A I643M lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). I643M has been identified in sequencing studies (PMID: 28634182), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
DNMT3A mutant DNMT3A I643M |
Transcript | NM_022552.5 |
gDNA | chr2:g.25243905G>C |
cDNA | c.1929C>G |
Protein | p.I643M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005264175.6 | chr2:g.25243905G>C | c.1929C>G | p.I643M | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25243905G>C | c.1929C>G | p.I643M | RefSeq | GRCh38/hg38 |
NM_022552.5 | chr2:g.25243905G>C | c.1929C>G | p.I643M | RefSeq | GRCh38/hg38 |
XM_011532664.3 | chr2:g.25243905G>C | c.1929C>G | p.I643M | RefSeq | GRCh38/hg38 |
XM_017003526.1 | chr2:g.25243905G>C | c.1929C>G | p.I643M | RefSeq | GRCh38/hg38 |
XM_047443593.1 | chr2:g.25243905G>C | c.1929C>G | p.I643M | RefSeq | GRCh38/hg38 |
XM_017003526.2 | chr2:g.25243905G>C | c.1929C>G | p.I643M | RefSeq | GRCh38/hg38 |
XM_011532664.2 | chr2:g.25243905G>C | c.1929C>G | p.I643M | RefSeq | GRCh38/hg38 |
NM_022552.4 | chr2:g.25243905G>C | c.1929C>G | p.I643M | RefSeq | GRCh38/hg38 |
XM_005264175.5 | chr2:g.25243905G>C | c.1929C>G | p.I643M | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25243905G>C | c.1929C>G | p.I643M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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