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Gene | DNMT3A |
Variant | P619Lfs*32 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | DNMT3A P619Lfs*32 indicates a shift in the reading frame starting at amino acid 619 and terminating 32 residues downstream causing a premature truncation of the 912 amino acid Dnmt3a protein (UniProt.org). P619Lfs*32 has not been characterized, however, due to the effects of other truncation mutations downstream of P619 (PMID: 28872462, 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 P619Lfs*32 |
Transcript | NM_022552.4 |
gDNA | chr2:g.25243980delG |
cDNA | c.1856delC |
Protein | p.P619Lfs*32 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_175629.2 | chr2:g.25243980delG | c.1856delC | p.P619Lfs*32 | RefSeq | GRCh38/hg38 |
NM_022552.4 | chr2:g.25243980delG | c.1856delC | p.P619Lfs*32 | RefSeq | GRCh38/hg38 |
XM_005264175.5 | chr2:g.25243980delG | c.1856delC | p.P619Lfs*32 | RefSeq | GRCh38/hg38 |
XM_011532664.2 | chr2:g.25243980delG | c.1856delC | p.P619Lfs*32 | RefSeq | GRCh38/hg38 |
XM_017003526.1 | chr2:g.25243980delG | c.1856delC | p.P619Lfs*32 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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