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Gene CHEK2
Variant R519*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions CHEK2 R519* results in a premature truncation of the Chek2 protein at amino acid 519 of 543 (UniProt.org). R519* results in intermediate levels of Kap 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 R519*

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Transcript NM_007194.4
gDNA chr22:g.28687974G>A
cDNA c.1555C>T
Protein p.R519*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.3 chr22:g.28687974G>A c.1555C>T p.R519* RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28687974G>A c.1555C>T p.R519* RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries