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Gene | DNMT3A |
Variant | V785M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | DNMT3A V785M lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). V785M has been identified in sequencing studies (PMID: 22490330), 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 V785M |
Transcript | NM_022552.5 |
gDNA | chr2:g.25239185C>T |
cDNA | c.2353G>A |
Protein | p.V785M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_022552.4 | chr2:g.25239185C>T | c.2353G>A | p.V785M | RefSeq | GRCh38/hg38 |
NM_022552.5 | chr2:g.25239185C>T | c.2353G>A | p.V785M | RefSeq | GRCh38/hg38 |
XM_005264175 | chr2:g.25239185C>T | c.2353G>A | p.V785M | RefSeq | GRCh38/hg38 |
XM_047443593.1 | chr2:g.25239185C>T | c.2353G>A | p.V785M | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25239185C>T | c.2353G>A | p.V785M | RefSeq | GRCh38/hg38 |
XM_017003526.1 | chr2:g.25239185C>T | c.2353G>A | p.V785M | RefSeq | GRCh38/hg38 |
XM_017003526.2 | chr2:g.25239185C>T | c.2353G>A | p.V785M | RefSeq | GRCh38/hg38 |
NM_175629 | chr2:g.25239185C>T | c.2353G>A | p.V785M | RefSeq | GRCh38/hg38 |
XM_005264175.6 | chr2:g.25239185C>T | c.2353G>A | p.V785M | RefSeq | GRCh38/hg38 |
NM_022552 | chr2:g.25239185C>T | c.2353G>A | p.V785M | RefSeq | GRCh38/hg38 |
XM_017003526 | chr2:g.25239185C>T | c.2353G>A | p.V785M | RefSeq | GRCh38/hg38 |
XM_005264175.5 | chr2:g.25239185C>T | c.2353G>A | p.V785M | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25239185C>T | c.2353G>A | p.V785M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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