CHEK2 L174V
Gene Variant Detail

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Gene CHEK2
Variant L174V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 L174V lies within the FHA domain of the Chek2 protein (UniProt.org). L174V results in phosphorylation of Kap1 at serine (S)-473 to similar levels as wild-type Chek2 in in vitro assays (PMID: 31050813) and in culture (PMID: 37449874) and autophosphorylation similar to wild-type in culture (PMID: 37449874), but results in a loss of Kap1 phosphorylation in a cell culture system that preserves posttranslational modifications of Chek2 (PMID: 31050813), and therefore, its effect on Chek2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 L174V

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Transcript NM_007194.4
gDNA chr22:g.28725049G>C
cDNA c.520C>G
Protein p.L174V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_145862.2 chr22:g.28725049G>C c.520C>G p.L174V RefSeq GRCh38/hg38
XM_006724116.3 chr22:g.28696933G>C c.520C>G p.L174V RefSeq GRCh38/hg38
XM_006724116 chr22:g.28696933G>C c.520C>G p.L174V RefSeq GRCh38/hg38
NM_007194 chr22:g.28725049G>C c.520C>G p.L174V RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725049G>C c.520C>G p.L174V RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725049G>C c.520C>G p.L174V RefSeq GRCh38/hg38
NM_145862 chr22:g.28725049G>C c.520C>G p.L174V RefSeq GRCh38/hg38
XM_006724116.2 chr22:g.28696933G>C c.520C>G p.L174V RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725049G>C c.520C>G p.L174V RefSeq GRCh38/hg38

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References