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Gene CHEK2
Variant I251F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 I251F lies within the protein kinase domain of the Chek2 protein (UniProt.org). I251F results in intermediate levels of Chek2 phosphorylation and decreased Kap1 phosphorylation upon ionizing radiation in cell culture (PMID: 34903604), but has not been fully biochemically characterized and therefore, its effect on Chek2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 I251F

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Transcript NM_007194.4
gDNA chr22:g.28711950T>A
cDNA c.751A>T
Protein p.I251F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28711950T>A c.751A>T p.I251F RefSeq GRCh38/hg38
XM_047441108.1 chr22:g.28695184T>A c.751A>T p.I251F RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28711950T>A c.751A>T p.I251F RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28711950T>A c.751A>T p.I251F RefSeq GRCh38/hg38
NM_007194 chr22:g.28711950T>A c.751A>T p.I251F RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28711950T>A c.751A>T p.I251F RefSeq GRCh38/hg38
NM_145862 chr22:g.28711950T>A c.751A>T p.I251F 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