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Gene CHEK1
Variant S193Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK1 S193Y lies within the protein kinase domain of the Chek1 protein (UniProt.org). S193Y has been identified in sequencing studies (PMID: 34568053), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

CHEK1 mutant CHEK1 S193Y

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Transcript NM_001114121.2
gDNA chr11:g.125633316C>A
cDNA c.578C>A
Protein p.S193Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001274.5 chr11:g.125633316C>A c.578C>A p.S193Y RefSeq GRCh38/hg38
XM_024448337.2 chr11:g.125633316C>A c.578C>A p.S193Y RefSeq GRCh38/hg38
XM_047426311.1 chr11:g.125633316C>A c.578C>A p.S193Y RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125633316C>A c.578C>A p.S193Y RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125633316C>A c.578C>A p.S193Y RefSeq GRCh38/hg38
NM_001114122.3 chr11:g.125633316C>A c.578C>A p.S193Y RefSeq GRCh38/hg38
NM_001114122.2 chr11:g.125633316C>A c.578C>A p.S193Y RefSeq GRCh38/hg38
XM_017017146.2 chr11:g.125633316C>A c.578C>A p.S193Y RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125633316C>A c.578C>A p.S193Y RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125633316C>A c.578C>A p.S193Y RefSeq GRCh38/hg38
XM_024448337.1 chr11:g.125633316C>A c.578C>A p.S193Y RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125633316C>A c.578C>A p.S193Y 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
CHEK1 S193Y unknown