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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

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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
XM_005264175.5 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_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

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries