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 R406H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 R406H lies within the protein kinase domain of the Chek2 protein (UniProt.org). R406H results in cell proliferation similar to wild-type Chek2 in a yeast assay (PMID: 30851065), and intermediate Kap1 phosphorylation levels at serine (S)-473 in culture, but demonstrates conflicting effects on Kap1 phosphorylation in in vitro assays (PMID: 31050813), and therefore, its effect on Chek2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 R406H

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.28695752C>T
cDNA c.1217G>A
Protein p.R406H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011529840 chr22:g.28695823_28695825delTCTinsATG c.1216_1218delAGAinsCAT p.R406H RefSeq GRCh38/hg38
NM_007194 chr22:g.28695752C>T c.1217G>A p.R406H RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695752C>T c.1217G>A p.R406H RefSeq GRCh38/hg38
XM_011529840.3 chr22:g.28695823_28695825delAGAinsCAT c.1216_1218delAGAinsCAT p.R406H RefSeq GRCh38/hg38
XM_011529840.4 chr22:g.28695823_28695825delAGAinsCAT c.1216_1218delAGAinsCAT p.R406H RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28695752C>T c.1217G>A p.R406H 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
CHEK2 mutant Advanced Solid Tumor no benefit Olaparib Phase II Actionable In a Phase II trial, Lynparza (olaparib) treatment did not demonstrate clinical activity in patients with advanced solid tumors harboring ATM (n=13) or CHEK2 (n=14) mutations (Ann Oncol (2023) 34 (suppl_2): S242; NCT03967938). detail...
CHEK2 mutant prostate cancer not applicable N/A Guideline Risk Factor Germline CHEK2 mutations are associated with increased risk of developing prostate cancer (NCCN.org). detail...
CHEK2 mutant breast cancer not applicable N/A Guideline Risk Factor Germline CHEK2 mutations are associated with increased risk of developing breast cancer (NCCN.org). detail...
CHEK2 mutant breast cancer no benefit Olaparib Case Reports/Case Series Actionable In a Phase II trial (TBCRC 048), Lynparza (olaparib) treatment did not result in an objective response in 7 patients with metastatic breast cancer harboring only germline mutations in CHEK2 (PMID: 33119476; NCT03344965). 33119476