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Gene CHEK2
Variant T476M
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 T476M lies within the protein kinase domain of the Chek2 protein (UniProt.org). T476M results in kinase activity similar to wild-type Chek2 in cultured cells but decreased kinase activity in in vitro assays (PMID: 31050813, PMID: 22114986) and decreased DNA damage response in yeast (PMID: 22419737).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 T476M

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Transcript NM_007194.4
gDNA chr22:g.28694066G>A
cDNA c.1427C>T
Protein p.T476M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011529842.2 chr22:g.28687930_28687931delCAinsTG c.1427_1428delCAinsTG p.T476M RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28694066G>A c.1427C>T p.T476M RefSeq GRCh38/hg38
NM_007194 chr22:g.28694066G>A c.1427C>T p.T476M RefSeq GRCh38/hg38
XM_011529842 chr22:g.28687930_28687931delTGinsCA c.1427_1428delCAinsTG p.T476M RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28694066G>A c.1427C>T p.T476M RefSeq GRCh38/hg38
XM_011529842.3 chr22:g.28687930_28687931delCAinsTG c.1427_1428delCAinsTG p.T476M 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