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Gene CHEK2
Variant E321*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 E321* results in a premature truncation within the protein kinase domain of the Chek2 protein at amino acid 321 of 543 (UniProt.org). E321* has not been characterized, however, due to the effects of other truncation mutations downstream of E321 resulting in disruption of the protein kinase domain (PMID: 11053450, PMID: 16982735, PMID: 31050813), is predicted to lead to a loss of Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 E321*

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Transcript NM_007194.4
gDNA chr22:g.28699885C>A
cDNA c.961G>T
Protein p.E321*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28699885C>A c.961G>T p.E321* RefSeq GRCh38/hg38
XM_006724116.2 chr22:g.28689173C>A c.961G>T p.E321* RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28699885C>A c.961G>T p.E321* RefSeq GRCh38/hg38
XM_006724116 chr22:g.28689173C>A c.961G>T p.E321* RefSeq GRCh38/hg38
NM_145862 chr22:g.28699885C>A c.961G>T p.E321* RefSeq GRCh38/hg38
NM_007194 chr22:g.28699885C>A c.961G>T p.E321* RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28699885C>A c.961G>T p.E321* RefSeq GRCh38/hg38
XM_006724116.3 chr22:g.28689173C>A c.961G>T p.E321* RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28699885C>A c.961G>T p.E321* 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

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Molecular Profile Protein Effect Treatment Approaches
CHEK2 E321* loss of function - predicted Olaparib