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Gene | DNMT3A |
Variant | A741V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | DNMT3A A741V lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). A741V has been identified in sequencing studies (PMID: 21067377, PMID: 26373574, PMID: 32774506), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Jul 2024). |
Associated Drug Resistance | |
Category Variants Paths |
DNMT3A mutant DNMT3A A741V |
Transcript | NM_022552.5 |
gDNA | chr2:g.25240402G>A |
cDNA | c.2222C>T |
Protein | p.A741V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_175629 | chr2:g.25240402G>A | c.2222C>T | p.A741V | RefSeq | GRCh38/hg38 |
XM_011532664 | chr2:g.25240402G>A | c.2222C>T | p.A741V | RefSeq | GRCh38/hg38 |
XM_017003526.1 | chr2:g.25240402G>A | c.2222C>T | p.A741V | RefSeq | GRCh38/hg38 |
XM_011532664.2 | chr2:g.25240402G>A | c.2222C>T | p.A741V | RefSeq | GRCh38/hg38 |
NM_022552.4 | chr2:g.25240402G>A | c.2222C>T | p.A741V | RefSeq | GRCh38/hg38 |
XM_005264175.5 | chr2:g.25240402G>A | c.2222C>T | p.A741V | RefSeq | GRCh38/hg38 |
XM_017003526.2 | chr2:g.25240402G>A | c.2222C>T | p.A741V | RefSeq | GRCh38/hg38 |
NM_022552 | chr2:g.25240402G>A | c.2222C>T | p.A741V | RefSeq | GRCh38/hg38 |
XM_047443593.1 | chr2:g.25240402G>A | c.2222C>T | p.A741V | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25240402G>A | c.2222C>T | p.A741V | RefSeq | GRCh38/hg38 |
NM_022552.5 | chr2:g.25240402G>A | c.2222C>T | p.A741V | RefSeq | GRCh38/hg38 |
XM_005264175.6 | chr2:g.25240402G>A | c.2222C>T | p.A741V | RefSeq | GRCh38/hg38 |
XM_017003526 | chr2:g.25240402G>A | c.2222C>T | p.A741V | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25240402G>A | c.2222C>T | p.A741V | RefSeq | GRCh38/hg38 |
XM_011532664.3 | chr2:g.25240402G>A | c.2222C>T | p.A741V | RefSeq | GRCh38/hg38 |
XM_005264175 | chr2:g.25240402G>A | c.2222C>T | p.A741V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
DNMT3A A741V | unknown |