CHEK1 G21R
Gene Variant Detail

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Gene CHEK1
Variant G21R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK1 G21R lies within the protein kinase domain of the Chek1 protein (UniProt.org). G21R demonstrates splicing similar to wild-type Chek1 in a minigene splicing assay (PMID: 31811167), but has not been fully biochemically characterized, and therefore, its effect on Chek1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CHEK1 mutant CHEK1 G21R

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Transcript NM_001114122.3
gDNA chr11:g.125626829G>A
cDNA c.61G>A
Protein p.G21R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001274 chr11:g.125626829G>A c.61G>A p.G21R RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125626829G>A c.61G>A p.G21R RefSeq GRCh38/hg38
NM_001114122 chr11:g.125626829G>A c.61G>A p.G21R RefSeq GRCh38/hg38
XM_017017146.2 chr11:g.125626829G>A c.61G>A p.G21R RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125626829G>A c.61G>A p.G21R RefSeq GRCh38/hg38
NM_001114121 chr11:g.125626829G>A c.61G>A p.G21R RefSeq GRCh38/hg38
NM_001244846 chr11:g.125626829G>A c.61G>A p.G21R RefSeq GRCh38/hg38
XM_047426311.1 chr11:g.125626829G>A c.61G>A p.G21R RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125626829G>A c.61G>A p.G21R RefSeq GRCh38/hg38
NM_001114122.3 chr11:g.125626829G>A c.61G>A p.G21R RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125626829G>A c.61G>A p.G21R RefSeq GRCh38/hg38
XM_024448337.1 chr11:g.125626829G>A c.61G>A p.G21R RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125626829G>A c.61G>A p.G21R RefSeq GRCh38/hg38
XM_017017146 chr11:g.125626829G>A c.61G>A p.G21R RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125626829G>A c.61G>A p.G21R RefSeq GRCh38/hg38
XM_024448337.2 chr11:g.125626829G>A c.61G>A p.G21R RefSeq GRCh38/hg38
NM_001114122.2 chr11:g.125626829G>A c.61G>A p.G21R RefSeq GRCh38/hg38

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  • 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