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Gene CHEK2
Variant D203G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 D203G does not lie within any known functional domains of the Chek2 protein (UniProt.org). D203G results in intermediate levels of Kap1 and Chek2 phosphorylation upon ionizing radiation and reduced protein stability (PMID: 34903604), but leads to a splicing pattern similar to wild-type Chek2 protein in culture (PMID: 28608266), and therefore, its effect on Chek2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 D203G

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Transcript NM_007194.4
gDNA chr22:g.28719470T>C
cDNA c.608A>G
Protein p.D203G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_145862 chr22:g.28719470T>C c.608A>G p.D203G RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28719470T>C c.608A>G p.D203G RefSeq GRCh38/hg38
XM_017028560.1 chr22:g.28725084T>C c.608A>G p.D203G RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28719470T>C c.608A>G p.D203G RefSeq GRCh38/hg38
XM_017028560.2 chr22:g.28725084T>C c.608A>G p.D203G RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28719470T>C c.608A>G p.D203G RefSeq GRCh38/hg38
XM_017028560 chr22:g.28725084T>C c.608A>G p.D203G RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28719470T>C c.608A>G p.D203G RefSeq GRCh38/hg38
NM_007194 chr22:g.28719470T>C c.608A>G p.D203G 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.
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Molecular Profile Protein Effect Treatment Approaches
CHEK2 D203G unknown