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 CHEK1
Variant D336*
Impact List nonsense
Protein Effect gain of function
Gene Variant Descriptions CHEK1 D336* results in a premature truncation of the Chek1 protein at amino acid 336 of 476 (UniProt.org). D336* confers a gain of function to the Chek1 protein as demonstrated by increased autophosphorylation and phosphorylation of Cdc25c in in vitro assays, and delayed cell cycle progression and impaired inactivating phosphorylation during mitosis in culture (PMID: 14681223).
Associated Drug Resistance
Category Variants Paths

CHEK1 mutant CHEK1 act mut CHEK1 D336*

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_001114121.2
gDNA chr11:g.125644173_125644175delGATinsTAA
cDNA c.1006_1008delGATinsTAA
Protein p.D336*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001244846.1 chr11:g.125644173_125644175delGATinsTAA c.1006_1008delGATinsTAA p.D336* RefSeq GRCh38/hg38
NM_001114121 chr11:g.125644173_125644175delGATinsTAA c.1006_1008delGATinsTAA p.D336* RefSeq GRCh38/hg38
XM_017017146 chr11:g.125644173_125644175delGATinsTAA c.1006_1008delGATinsTAA p.D336* RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125644173_125644175delGATinsTAA c.1006_1008delGATinsTAA p.D336* RefSeq GRCh38/hg38
NM_001114122.3 chr11:g.125644173_125644175delGATinsTAA c.1006_1008delGATinsTAA p.D336* RefSeq GRCh38/hg38
XM_017017146.2 chr11:g.125644173_125644175delGATinsTAA c.1006_1008delGATinsTAA p.D336* RefSeq GRCh38/hg38
XM_024448337.2 chr11:g.125644173_125644175delGATinsTAA c.1006_1008delGATinsTAA p.D336* RefSeq GRCh38/hg38
NM_001274 chr11:g.125644173_125644175delGATinsTAA c.1006_1008delGATinsTAA p.D336* RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125644173_125644175delGATinsTAA c.1006_1008delGATinsTAA p.D336* RefSeq GRCh38/hg38
NM_001244846 chr11:g.125644173_125644175delGATinsTAA c.1006_1008delGATinsTAA p.D336* RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125644173_125644175delGATinsTAA c.1006_1008delGATinsTAA p.D336* RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125644173_125644175delGATinsTAA c.1006_1008delGATinsTAA p.D336* RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125644173_125644175delGATinsTAA c.1006_1008delGATinsTAA p.D336* RefSeq GRCh38/hg38
NM_001114122 chr11:g.125644173_125644175delGATinsTAA c.1006_1008delGATinsTAA p.D336* RefSeq GRCh38/hg38
NM_001114122.2 chr11:g.125644173_125644175delGATinsTAA c.1006_1008delGATinsTAA p.D336* RefSeq GRCh38/hg38
XM_024448337.1 chr11:g.125644173_125644175delGATinsTAA c.1006_1008delGATinsTAA p.D336* RefSeq GRCh38/hg38
XM_047426311.1 chr11:g.125644173_125644175delGATinsTAA c.1006_1008delGATinsTAA p.D336* 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.

Molecular Profile Protein Effect Treatment Approaches
CHEK1 D336* gain of function