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Gene CHEK2
Variant V200A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 V200A does not lie within any known functional domains of the Chek2 protein (UniProt.org). V200A results in intermediate levels of Kap1 phosphorylation and unregulated Chek2 activity upon ionizing radiation in cell culture (PMID: 34903604), but has not been fully biochemically characterized and therefore, its effect on Chek2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 V200A

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Transcript NM_007194.4
gDNA chr22:g.28719479A>G
cDNA c.599T>C
Protein p.V200A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.3 chr22:g.28719479A>G c.599T>C p.V200A RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28719479A>G c.599T>C p.V200A RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28719479A>G c.599T>C p.V200A RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28719479A>G c.599T>C p.V200A 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References