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 I157T
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 I157T lies within the FHA domain of the Chek2 protein (UniProt.org). I157T displays kinase activity similar to wild-type Chek2 in an in vitro assay (PMID: 11053450), but fails to form dimers required for activation (PMID: 19782031) and has impaired binding to several proteins, including BRCA1 in cultured cells (PMID: 12049740), 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 I157T

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.28725099A>G
cDNA c.470T>C
Protein p.I157T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_145862.2 chr22:g.28725099A>G c.470T>C p.I157T RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725099A>G c.470T>C p.I157T RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725099A>G c.470T>C p.I157T RefSeq GRCh38/hg38
NM_007194 chr22:g.28725099A>G c.470T>C p.I157T RefSeq GRCh38/hg38
NM_145862 chr22:g.28725099A>G c.470T>C p.I157T RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725099A>G c.470T>C p.I157T 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References