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Gene | DNMT3A |
Variant | W601* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | DNMT3A W601* results in a premature truncation of the Dnmt3a protein at amino acid 601 of 912 (UniProt.org). W601* has not been characterized, however, due to the effects of other truncation mutations downstream of W601 (PMID: 28872462, PMID: 26595813, PMID: 35639959), is predicted to lead to a loss of Dnmt3a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
DNMT3A mutant DNMT3A inact mut DNMT3A W601* |
Transcript | NM_022552.5 |
gDNA | chr2:g.25244204C>T |
cDNA | c.1802G>A |
Protein | p.W601* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_175629.2 | chr2:g.25244204C>T | c.1802G>A | p.W601* | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25244204C>T | c.1802G>A | p.W601* | RefSeq | GRCh38/hg38 |
XM_011532664.3 | chr2:g.25244204C>T | c.1802G>A | p.W601* | RefSeq | GRCh38/hg38 |
XM_047443593.1 | chr2:g.25244204C>T | c.1802G>A | p.W601* | RefSeq | GRCh38/hg38 |
NM_022552.4 | chr2:g.25244204C>T | c.1802G>A | p.W601* | RefSeq | GRCh38/hg38 |
XM_005264175.5 | chr2:g.25244204C>T | c.1802G>A | p.W601* | RefSeq | GRCh38/hg38 |
XM_011532664.2 | chr2:g.25244204C>T | c.1802G>A | p.W601* | RefSeq | GRCh38/hg38 |
XM_017003526.2 | chr2:g.25244204C>T | c.1802G>A | p.W601* | RefSeq | GRCh38/hg38 |
XM_005264175.6 | chr2:g.25244204C>T | c.1802G>A | p.W601* | RefSeq | GRCh38/hg38 |
NM_001320893.1 | chr2:g.25240366C>T | c.1802G>A | p.W601* | RefSeq | GRCh38/hg38 |
XM_017003526.1 | chr2:g.25244204C>T | c.1802G>A | p.W601* | RefSeq | GRCh38/hg38 |
NM_022552.5 | chr2:g.25244204C>T | c.1802G>A | p.W601* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
DNMT3A W601* | loss of function - predicted |