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Gene | DNMT3A |
Variant | S837* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | DNMT3A S837* results in a premature truncation of the Dnmt3a protein at amino acid 837 of 912 (UniProt.org). S837* has not been characterized, however, due to the effects of other truncation mutations downstream of S837 (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 S837* |
Transcript | NM_022552.5 |
gDNA | chr2:g.25235794G>T |
cDNA | c.2510C>A |
Protein | p.S837* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011532663 | chr2:g.25234343G>T | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
NM_175629 | chr2:g.25235794G>T | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25235794G>T | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
NM_022552 | chr2:g.25235794G>T | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
XM_005264175.6 | chr2:g.25235794G>T | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25235794G>T | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
XM_005264175.5 | chr2:g.25235794G>T | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
NM_022552.5 | chr2:g.25235794G>T | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
XM_011532663.2 | chr2:g.25234343G>T | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
XM_017003526.1 | chr2:g.25235794G>T | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
XM_017003526.2 | chr2:g.25235794G>T | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
XM_005264175 | chr2:g.25235794G>T | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
XM_017003526 | chr2:g.25235794G>T | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
NM_022552.4 | chr2:g.25235794G>T | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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