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Gene CHEK2
Variant R523fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions CHEK2 R523fs results in a change in the amino acid sequence of the Chek2 protein beginning at aa 523 of 543, likely resulting in premature truncation of the functional protein (UniProt.org). R523fs 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 R523fs

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Transcript NM_007194.4
gDNA chr22:g.(28687962_28687963)
cDNA c.(1567_1566)
Protein p.R523fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.3 chr22:g.(28687962_28687963) c.(1567_1566) p.R523fs RefSeq GRCh38/hg38
NM_007194.4 chr22:g.(28687962_28687963) c.(1567_1566) p.R523fs RefSeq GRCh38/hg38
XM_017028560.2 chr22:g.(28694049_28694050) c.(1567_1566) p.R523fs RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.(28687968_28687969) c.(1567_1566) p.R523fs 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries