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Gene CHEK2
Variant S39F
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions CHEK2 S39F does not lie within any known functional domains of the Chek2 protein (UniProt.org). S39F demonstrates kinase activity similar to wildtype Chek2 in cell culture (PMID: 22114986), and therefore, is predicted to have no effect on Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 S39F

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Transcript NM_007194.4
gDNA chr22:g.28734606G>A
cDNA c.116C>T
Protein p.S39F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011529841.1 chr22:g.28734606G>A c.116C>T p.S39F RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28734606G>A c.116C>T p.S39F RefSeq GRCh38/hg38
NM_001257387 chr22:g.28711921_28711922delTGinsAA c.116_117delCAinsTT p.S39F RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28734606G>A c.116C>T p.S39F RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28734606G>A c.116C>T p.S39F RefSeq GRCh38/hg38
XM_017028561 chr22:g.28711921_28711922delTGinsAA c.116_117delCAinsTT p.S39F RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28734606G>A c.116C>T p.S39F RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28734606G>A c.116C>T p.S39F RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734606G>A c.116C>T p.S39F RefSeq GRCh38/hg38
NM_001257387.2 chr22:g.28711921_28711922delCAinsTT c.116_117delCAinsTT p.S39F RefSeq GRCh38/hg38
XM_011529845.3 chr22:g.28711921_28711922delCAinsTT c.116_117delCAinsTT p.S39F RefSeq GRCh38/hg38
NM_001005735 chr22:g.28734606G>A c.116C>T p.S39F RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734606G>A c.116C>T p.S39F RefSeq GRCh38/hg38
XM_017028561.2 chr22:g.28711921_28711922delCAinsTT c.116_117delCAinsTT p.S39F RefSeq GRCh38/hg38
XM_011529845.2 chr22:g.28711921_28711922delCAinsTT c.116_117delCAinsTT p.S39F RefSeq GRCh38/hg38
NM_007194 chr22:g.28734606G>A c.116C>T p.S39F RefSeq GRCh38/hg38
XM_011529845 chr22:g.28711921_28711922delTGinsAA c.116_117delCAinsTT p.S39F RefSeq GRCh38/hg38
NM_145862 chr22:g.28734606G>A c.116C>T p.S39F RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28734606G>A c.116C>T p.S39F RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28734606G>A c.116C>T p.S39F RefSeq GRCh38/hg38
XM_011529843 chr22:g.28734606G>A c.116C>T p.S39F RefSeq GRCh38/hg38
NM_001257387.1 chr22:g.28711921_28711922delCAinsTT c.116_117delCAinsTT p.S39F RefSeq GRCh38/hg38
XM_011529841 chr22:g.28734606G>A c.116C>T p.S39F RefSeq GRCh38/hg38
XM_047441104.1 chr22:g.28734606G>A c.116C>T p.S39F RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.28734606G>A c.116C>T p.S39F 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
  • 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References