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Gene CHEK2
Variant R346H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 R346H lies within the protein kinase domain of the Chek2 protein (UniProt.org). The functional effect of R346H is conflicting, as it results in a loss of Chek2 phosphorylation (PMID: 34903604) and loss of Kap1 phosphorylation at serine (S)-473 in cell culture and an in vitro assay (PMID: 31050813, PMID: 34903604) however, in another in vitro assay, R346H demonstrates similar Kap1 phosphorylation levels as wild-type Chek2 (PMID: 31050813), and therefore, its effect on Chek2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 R346H

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Transcript NM_007194.4
gDNA chr22:g.28696959C>T
cDNA c.1037G>A
Protein p.R346H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047441108.1 chr22:g.28687925C>T c.1037G>A p.R346H RefSeq GRCh38/hg38
NM_007194 chr22:g.28696959C>T c.1037G>A p.R346H RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28696959C>T c.1037G>A p.R346H RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28696959C>T c.1037G>A p.R346H RefSeq GRCh38/hg38

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  • 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")

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