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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, Oct 2023).
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_001114122.3 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_001114122.2 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_001244846.1 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
NM_001274.5 chr11:g.125633316C>A c.578C>A p.S193Y RefSeq GRCh38/hg38

Filtering

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