Gene Variant Detail

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Gene CHEK2
Variant I221V
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions CHEK2 I221V lies within the protein kinase domain of the Chek2 protein (UniProt.org). I221V results in cell proliferation similar to wild-type Chek2 in a yeast assay (PMID: 30851065), and therefore, is predicted to have no effect on Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 I221V

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Transcript NM_007194.4
gDNA chr22:g.28719417T>C
cDNA c.661A>G
Protein p.I221V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011529843 chr22:g.28703551T>C c.661A>G p.I221V RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28703551T>C c.661A>G p.I221V RefSeq GRCh38/hg38
NM_007194 chr22:g.28719417T>C c.661A>G p.I221V RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28703551T>C c.661A>G p.I221V RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28719417T>C c.661A>G p.I221V RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28719417T>C c.661A>G p.I221V RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28719417T>C c.661A>G p.I221V RefSeq GRCh38/hg38
NM_145862 chr22:g.28719417T>C c.661A>G p.I221V RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28719417T>C c.661A>G p.I221V RefSeq GRCh38/hg38

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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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries