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Gene | DNMT3A |
Variant | P59L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | DNMT3A P59L does not lie within any known functional domains of the Dnmt3a protein (UniProt.org). P59L has been identified in the scientific literature (PMID: 27900369), 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 P59L |
Transcript | NM_022552.5 |
gDNA | chr2:g.25300140G>A |
cDNA | c.176C>T |
Protein | p.P59L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005264177.4 | chr2:g.25248047G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_005264175.6 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_017003526.2 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_005264175.5 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_017003527.2 | chr2:g.25248047G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
NM_001320892.2 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_017003526 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_011532664.2 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_011532664.3 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
NM_001375819.1 | chr2:g.25248047G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_005264175 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_011532664 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
NM_001320892 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
NM_022552.5 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_047443596.1 | chr2:g.25248047G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_017003527.1 | chr2:g.25248047G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
NM_022552 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
NM_175630.1 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
NM_175630.1 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
NM_001320892.1 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
NM_175630 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
NM_022552.4 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_011532667 | chr2:g.25248047G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_047443593.1 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_011532667.4 | chr2:g.25248047G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_017003527 | chr2:g.25248047G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
NM_175629 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_017003526.1 | chr2:g.25300140G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_047443597.1 | chr2:g.25248047G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_047443599.1 | chr2:g.25248047G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_011532667.3 | chr2:g.25248047G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_005264177 | chr2:g.25248047G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
XM_047443598.1 | chr2:g.25248047G>A | c.176C>T | p.P59L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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