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 CHEK2
Variant K253*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 K253* results in a premature truncation of the Chek2 protein at amino acid 253 of 543 (UniProt.org). K253* results in decreased Kap1 phosphorylation at (S)-473 upon ionizing radiation in cell culture (PMID: 34903604), and therefore, is predicted to lead to a loss of Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 K253*

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_007194.4
gDNA chr22:g.28711944T>A
cDNA c.757A>T
Protein p.K253*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.3 chr22:g.28711944T>A c.757A>T p.K253* RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28711944T>A c.757A>T p.K253* RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28711944T>A c.757A>T p.K253* RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28711944T>A c.757A>T p.K253* RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28699888T>A c.757A>T p.K253* 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
CHEK2 K253* loss of function - predicted Olaparib