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Gene CHEK2
Variant H282Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 H282Y lies within the protein kinase domain of the Chek2 protein (UniProt.org). H282Y has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, May 2024).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 H282Y

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Transcript NM_007194.4
gDNA chr22:g.28710008G>A
cDNA c.844C>T
Protein p.H282Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_145862.2 chr22:g.28710008G>A c.844C>T p.H282Y RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28710008G>A c.844C>T p.H282Y RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28710008G>A c.844C>T p.H282Y RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28710008G>A c.844C>T p.H282Y RefSeq GRCh38/hg38
XM_011529842.3 chr22:g.28696981G>A c.844C>T p.H282Y RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • 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")

Sorting

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