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Gene CHEK2
Variant S49F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 S49F does not lie within any known functional domains of the Chek2 protein (UniProt.org). S49F has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 S49F

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Transcript NM_007194.4
gDNA chr22:g.28734576G>A
cDNA c.146C>T
Protein p.S49F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001005735.2 chr22:g.28734576G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28734576G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_011529840.4 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_011529839.3 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_011529842 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_024452148.2 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_011529841 chr22:g.28734576G>A c.146C>T p.S49F RefSeq GRCh38/hg38
NM_145862 chr22:g.28734576G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_011529839.2 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
NM_007194 chr22:g.28734576G>A c.146C>T p.S49F RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28734576G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_011529840 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734576G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_047441107.1 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_011529843 chr22:g.28734576G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_011529842.3 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.28734576G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_047441108.1 chr22:g.28712318_28712319delAGinsTT c.145_146delAGinsTT p.S49F RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28734576G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_024452149.1 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28734576G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_011529839 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_011529840.3 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_047441104.1 chr22:g.28734576G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_011529844.3 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_011529844 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_024452149.2 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_017028560 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734576G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_024452148.1 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28734576G>A c.146C>T p.S49F RefSeq GRCh38/hg38
NM_001005735 chr22:g.28734576G>A c.146C>T p.S49F RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28734576G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_017028560.2 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_006724114.4 chr22:g.28712318_28712319delAGinsTT c.145_146delAGinsTT p.S49F RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28734576G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_017028560.1 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_011529844.2 chr22:g.28734606G>A c.146C>T p.S49F RefSeq GRCh38/hg38
XM_011529842.2 chr22:g.28734606G>A c.146C>T p.S49F 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