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Gene CHEK2
Variant R474H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 R474H lies within the protein kinase domain of the Chek2 protein (UniProt.org). R474H results in decreased Chek2 protein stability in culture (PMID: 34903604), and results in a loss of Kap1 phosphorylation at serine (S)-473 compared to wild-type Chek2 in culture and in vitro assays (PMID: 31050813, PMID: 34903604).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 R474H

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Transcript NM_007194.4
gDNA chr22:g.28694072C>T
cDNA c.1421G>A
Protein p.R474H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024452149.2 chr22:g.28689198_28689200delAGAinsCAT c.1420_1422delAGAinsCAT p.R474H RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28694072C>T c.1421G>A p.R474H RefSeq GRCh38/hg38
XM_024452149.1 chr22:g.28689198_28689200delAGAinsCAT c.1420_1422delAGAinsCAT p.R474H RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28695209_28695211delAGGinsCAT c.1420_1422delAGGinsCAT p.R474H RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28695209_28695211delAGGinsCAT c.1420_1422delAGGinsCAT p.R474H RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28694072C>T c.1421G>A p.R474H RefSeq GRCh38/hg38
NM_001005735 chr22:g.28695209_28695211delCCTinsATG c.1420_1422delAGGinsCAT p.R474H RefSeq GRCh38/hg38
NM_007194 chr22:g.28694072C>T c.1421G>A p.R474H RefSeq GRCh38/hg38

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