Gene Variant Detail

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Gene CHEK2
Variant I448S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 I448S lies within the protein kinase domain of the Chek2 protein (UniProt.org). I448S results in intermediate levels of Kap1 phosphorylation, and Chek2 phosphorylation similar to wild-type Chek2 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 I448S

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Transcript NM_007194.4
gDNA chr22:g.28695159A>C
cDNA c.1343T>G
Protein p.I448S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28695159A>C c.1343T>G p.I448S RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695159A>C c.1343T>G p.I448S 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.

Molecular Profile Protein Effect Treatment Approaches
CHEK2 I448S unknown