DNMT3A R792Afs*10
Gene Variant Detail

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Gene DNMT3A
Variant R792Afs*10
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions DNMT3A R792Afs*10 indicates a shift in the reading frame starting at amino acid 792 and terminating 10 residues downstream causing a premature truncation of the 912 amino acid Dnmt3a protein (UniProt.org). R792Afs*10 has not been characterized, however, due to the effects of other truncation mutations downstream of R792 (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 R792Afs*10

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Transcript NM_022552.5
gDNA chr2:g.25239166delG
cDNA c.2374delC
Protein p.R792Afs*10
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005264175.5 chr2:g.25239166delG c.2374delC p.R792Afs*10 RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25239166delG c.2374delC p.R792Afs*10 RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25239166delG c.2374delC p.R792Afs*10 RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25239166delG c.2374delC p.R792Afs*10 RefSeq GRCh38/hg38
XM_047443592.1 chr2:g.(25234315_25234347) c.(2374_2406) p.R792Afs*10 RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25239166delG c.2374delC p.R792Afs*10 RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25239166delG c.2374delC p.R792Afs*10 RefSeq GRCh38/hg38
XM_047443593.1 chr2:g.25239166delG c.2374delC p.R792Afs*10 RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25239166delG c.2374delC p.R792Afs*10 RefSeq GRCh38/hg38
NM_022552.4 chr2:g.25239166delG c.2374delC p.R792Afs*10 RefSeq GRCh38/hg38

Filtering

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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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References