Gene Variant Detail

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Gene DNMT3A
Variant H873A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions DNMT3A H873A lies within the dimer interface region of the Dnmt3a protein (PMID: 22722925). H873A disrupts the teramerization ability of the Dnmt3a protein, resulting in reduced DNA binding affinity, reduced methylation activity, and altered catalytic activity (PMID: 22722925).
Associated Drug Resistance

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Transcript NM_022552
gDNA chr2:g.25234400_25234401delTGinsGC
cDNA c.2617_2618delCAinsGC
Protein p.H873A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017003526 chr2:g.25234400_25234401delTGinsGC c.2617_2618delCAinsGC p.H873A RefSeq GRCh38/hg38
XM_005264175 chr2:g.25234400_25234401delTGinsGC c.2617_2618delCAinsGC p.H873A RefSeq GRCh38/hg38
NM_022552 chr2:g.25234400_25234401delTGinsGC c.2617_2618delCAinsGC p.H873A RefSeq GRCh38/hg38
NM_175629 chr2:g.25234400_25234401delTGinsGC c.2617_2618delCAinsGC p.H873A RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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"

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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
DNMT3A H873A loss of function