Gene Variant Detail

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

CHEK2 mutant CHEK2 inact mut 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_007194.4 chr22:g.28725049G>C c.520C>G p.L174V RefSeq GRCh38/hg38
NM_007194 chr22:g.28725049G>C c.520C>G p.L174V RefSeq GRCh38/hg38
NM_145862.2 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
XM_006724116.3 chr22:g.28696933G>C c.520C>G p.L174V RefSeq GRCh38/hg38
NM_145862 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
XM_006724116 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

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

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Molecular Profile Protein Effect Treatment Approaches
CHEK2 L174V loss of function - predicted Olaparib