CHEK2 E351D
Gene Variant Detail

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Gene CHEK2
Variant E351D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 E351D lies within the protein kinase domain of the Chek2 protein (UniProt.org). E351D results in an intermediate level of Chek2 autophosphorylation at T383 and reduced Kap1 phosphorylation upon ionizing radiation in culture (PMID: 34903604), and decreased Kap1 phosphorylation and Chek2 autophosphorylation at S516 in CHEK2-null cells in culture (PMID: 37449874), and therefore, its effect on Chek2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 E351D

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Transcript NM_007194.4
gDNA chr22:g.28696943C>G
cDNA c.1053G>C
Protein p.E351D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28696943C>G c.1053G>C p.E351D RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28699922C>G c.1053G>C p.E351D RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28696943C>G c.1053G>C p.E351D RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28699922C>G c.1053G>C p.E351D RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28699922C>G c.1053G>C p.E351D RefSeq GRCh38/hg38
NM_001005735 chr22:g.28699922C>G c.1053G>C p.E351D RefSeq GRCh38/hg38
NM_007194 chr22:g.28696943C>G c.1053G>C p.E351D 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.
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Molecular Profile Protein Effect Treatment Approaches
CHEK2 E351D unknown