Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene DNMT3A
Variant R478Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions DNMT3A R478Q lies within the ADD domain of the Dnmt3a protein (UniProt.org). R478Q has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2018).
Associated Drug Resistance

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.

Transcript NM_022552
gDNA chr2:g.25246061C>T
cDNA c.1433G>A
Protein p.R478Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005264175 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
NM_175629 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
XM_017003526 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
NM_022552 chr2:g.25246061C>T c.1433G>A p.R478Q RefSeq GRCh38/hg38
XM_011532664 chr2:g.25246061C>T c.1433G>A p.R478Q 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 R478Q unknown