Gene Variant Detail

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Gene DNMT3A
Variant E240*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions DNMT3A E240* results in a premature truncation of the Dnmt3a protein at amino acid 240 of 912 (UniProt.org). E240* has not been characterized however, due to the effects of other truncation mutations downstream of E240 (PMID: 28872462, PMID: 26595813), E240* is predicted to lead to a loss of Dnmt3a protein function.
Associated Drug Resistance

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Transcript NM_022552
gDNA chr2:g.25248174C>A
cDNA c.718G>T
Protein p.E240*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_175629 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_017003527 chr2:g.25246202C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_005264175 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
NM_001320893 chr2:g.25246725C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_011532667 chr2:g.25246202C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_005264177 chr2:g.25246202C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_017003526 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
NM_022552 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_011532664 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
DNMT3A E240* loss of function - predicted