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@genomenon.com

Gene DNMT3A
Variant G590fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions DNMT3A G590fs results in a change in the amino acid sequence of the Dnmt3a protein beginning at aa 590 of 912, likely resulting in premature truncation of the functional protein (UniProt.org). G590fs has not been characterized, however, due to the effects of other truncation mutations downstream of G590 (PMID: 28872462, PMID: 26595813, 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 G590fs

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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.
  • 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_022552.5
gDNA chr2:g.(25244238_25244239)
cDNA c.(1768_1767)
Protein p.G590fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_175629.2 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
NM_175629.2 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
XM_047443593.1 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
XM_011532664 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
XM_011532664.2 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
NM_022552.4 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
NM_022552.5 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
XM_017003526 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
XM_005264175 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
NM_175629 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
NM_022552 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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.
  • 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries