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Gene CHEK1
Variant D8N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK1 D8N lies within the CLSPN-interacting region of the Chk1 protein (UniProt.org). D8N has been identified in sequencing studies (PMID: 33692861), 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 D8N

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Transcript NM_001114121.2
gDNA chr11:g.125626790G>A
cDNA c.22G>A
Protein p.D8N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001114122.3 chr11:g.125626790G>A c.22G>A p.D8N RefSeq GRCh38/hg38
NM_001114122.2 chr11:g.125626790G>A c.22G>A p.D8N RefSeq GRCh38/hg38
XM_017017146.2 chr11:g.125626790G>A c.22G>A p.D8N RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125626790G>A c.22G>A p.D8N RefSeq GRCh38/hg38
NM_001274 chr11:g.125626790G>A c.22G>A p.D8N RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125626790G>A c.22G>A p.D8N RefSeq GRCh38/hg38
NM_001244846 chr11:g.125626790G>A c.22G>A p.D8N RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125626790G>A c.22G>A p.D8N RefSeq GRCh38/hg38
XM_024448337.1 chr11:g.125626790G>A c.22G>A p.D8N RefSeq GRCh38/hg38
NM_001114121 chr11:g.125626790G>A c.22G>A p.D8N RefSeq GRCh38/hg38
XM_024448337.2 chr11:g.125626790G>A c.22G>A p.D8N RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125626790G>A c.22G>A p.D8N RefSeq GRCh38/hg38
NM_001114122 chr11:g.125626790G>A c.22G>A p.D8N RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125626790G>A c.22G>A p.D8N RefSeq GRCh38/hg38
XM_017017146 chr11:g.125626790G>A c.22G>A p.D8N RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125626790G>A c.22G>A p.D8N RefSeq GRCh38/hg38
XM_047426311.1 chr11:g.125626790G>A c.22G>A p.D8N RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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