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Gene | DNMT3A |
Variant | S352N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | DNMT3A S352N lies within the DNMT1 and DNMT3B-interacting region of the Dnmt3a protein (UniProt.org). S352N has been identified in sequencing studies (PMID: 21993668), 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 S352N |
Transcript | NM_022552.5 |
gDNA | chr2:g.25247118C>T |
cDNA | c.1055G>A |
Protein | p.S352N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011532664.2 | chr2:g.25247118C>T | c.1055G>A | p.S352N | RefSeq | GRCh38/hg38 |
XM_005264175.6 | chr2:g.25247118C>T | c.1055G>A | p.S352N | RefSeq | GRCh38/hg38 |
XM_005264175 | chr2:g.25247118C>T | c.1055G>A | p.S352N | RefSeq | GRCh38/hg38 |
NM_022552.5 | chr2:g.25247118C>T | c.1055G>A | p.S352N | RefSeq | GRCh38/hg38 |
XM_011532664.3 | chr2:g.25247118C>T | c.1055G>A | p.S352N | RefSeq | GRCh38/hg38 |
XM_017003526.2 | chr2:g.25247118C>T | c.1055G>A | p.S352N | RefSeq | GRCh38/hg38 |
NM_175629 | chr2:g.25247118C>T | c.1055G>A | p.S352N | RefSeq | GRCh38/hg38 |
XM_011532664 | chr2:g.25247118C>T | c.1055G>A | p.S352N | RefSeq | GRCh38/hg38 |
NM_022552.4 | chr2:g.25247118C>T | c.1055G>A | p.S352N | RefSeq | GRCh38/hg38 |
XM_005264175.5 | chr2:g.25247118C>T | c.1055G>A | p.S352N | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25247118C>T | c.1055G>A | p.S352N | RefSeq | GRCh38/hg38 |
NM_022552 | chr2:g.25247118C>T | c.1055G>A | p.S352N | RefSeq | GRCh38/hg38 |
XM_047443593.1 | chr2:g.25247118C>T | c.1055G>A | p.S352N | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25247118C>T | c.1055G>A | p.S352N | RefSeq | GRCh38/hg38 |
XM_017003526.1 | chr2:g.25247118C>T | c.1055G>A | p.S352N | RefSeq | GRCh38/hg38 |
XM_017003526 | chr2:g.25247118C>T | c.1055G>A | p.S352N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
DNMT3A S352N | unknown |