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Gene CHEK2
Variant L543S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 L543S does not lie within any known functional domains of the Chek2 protein (UniProt.org). L543S has not been characterized in the scientific literature and therefore, its effect on Chek2 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 L543S

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Transcript NM_007194.4
gDNA chr22:g.28687901A>G
cDNA c.1628T>C
Protein p.L543S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047441104.1 chr22:g.28689142_28689143delCTinsTC c.1627_1628delCTinsTC p.L543S RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28687901A>G c.1628T>C p.L543S RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28687901A>G c.1628T>C p.L543S RefSeq GRCh38/hg38
NM_007194 chr22:g.28687901A>G c.1628T>C p.L543S RefSeq GRCh38/hg38

Filtering

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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