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Gene CHEK2
Variant E64K
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 E64K does not lie within any known functional domains of the Chek2 protein (UniProt.org). E64K confers a loss of function to Chek2 protein as indicated by a loss of Chek2-mediated DNA damage response in yeast (PMID: 22419737), decreased Kap1 phosphorylation in response to radiation (PMID: 34903604), and reduced Chek2 expression and phosphorylation in culture (PMID: 33606978).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 E64K

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Transcript NM_007194.4
gDNA chr22:g.28734532C>T
cDNA c.190G>A
Protein p.E64K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047441106.1 chr22:g.28734532C>T c.190G>A p.E64K RefSeq GRCh38/hg38
NM_145862 chr22:g.28734532C>T c.190G>A p.E64K RefSeq GRCh38/hg38
XM_011529843 chr22:g.28734532C>T c.190G>A p.E64K RefSeq GRCh38/hg38
NM_007194 chr22:g.28734532C>T c.190G>A p.E64K RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734532C>T c.190G>A p.E64K RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28734532C>T c.190G>A p.E64K RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28734532C>T c.190G>A p.E64K RefSeq GRCh38/hg38
XM_047441104.1 chr22:g.28734532C>T c.190G>A p.E64K RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28734532C>T c.190G>A p.E64K RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28734532C>T c.190G>A p.E64K RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28734532C>T c.190G>A p.E64K RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28734532C>T c.190G>A p.E64K RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28734532C>T c.190G>A p.E64K RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734532C>T c.190G>A p.E64K RefSeq GRCh38/hg38
NM_001005735 chr22:g.28734532C>T c.190G>A p.E64K RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28734532C>T c.190G>A p.E64K RefSeq GRCh38/hg38
XM_011529841 chr22:g.28734532C>T c.190G>A p.E64K RefSeq GRCh38/hg38

Filtering

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  • 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

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  • 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries