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Gene CHEK2
Variant I251M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 I251M lies within the protein kinase domain of the Chek2 protein (UniProt.org). I251M has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 I251M

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Transcript NM_007194.4
gDNA chr22:g.28711948G>C
cDNA c.753C>G
Protein p.I251M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.3 chr22:g.28711948G>C c.753C>G p.I251M RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28711948G>C c.753C>G p.I251M RefSeq GRCh38/hg38
XM_047441108.1 chr22:g.28695182G>C c.753C>G p.I251M RefSeq GRCh38/hg38
NM_145862 chr22:g.28711948G>C c.753C>G p.I251M RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28711948G>C c.753C>G p.I251M RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28711948G>C c.753C>G p.I251M RefSeq GRCh38/hg38
NM_007194 chr22:g.28711948G>C c.753C>G p.I251M 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