Gene Variant Detail

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Gene CHEK2
Variant R137Q
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions CHEK2 R137Q lies within the FHA domain of the Chek2 protein (UniProt.org). R137Q demonstrates kinase activity similar to wild-type Chek2 in cell culture (PMID: 17721994, PMID: 22114986), and therefore, is predicted to have no effect on Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 R137Q

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Transcript NM_007194.4
gDNA chr22:g.28725277C>T
cDNA c.410G>A
Protein p.R137Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047441105.1 chr22:g.28730458_28730459delAGinsCA c.409_410delAGinsCA p.R137Q RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28725277C>T c.410G>A p.R137Q RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725277C>T c.410G>A p.R137Q RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28730458_28730459delAGinsCA c.409_410delAGinsCA p.R137Q RefSeq GRCh38/hg38
NM_001005735 chr22:g.28730458_28730459delCTinsTG c.409_410delAGinsCA p.R137Q RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.28730458_28730459delAGinsCA c.409_410delAGinsCA p.R137Q RefSeq GRCh38/hg38
XM_006724116 chr22:g.28699892_28699893delGCinsTT c.410_411delGCinsAA p.R137Q RefSeq GRCh38/hg38
XM_011529843 chr22:g.28725277C>T c.410G>A p.R137Q RefSeq GRCh38/hg38
NM_007194 chr22:g.28725277C>T c.410G>A p.R137Q RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28730458_28730459delAGinsCA c.409_410delAGinsCA p.R137Q RefSeq GRCh38/hg38
XM_011529841 chr22:g.28730458_28730459delCTinsTG c.409_410delAGinsCA p.R137Q RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28725277C>T c.410G>A p.R137Q RefSeq GRCh38/hg38
XM_047441104.1 chr22:g.28730458_28730459delAGinsCA c.409_410delAGinsCA p.R137Q RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725277C>T c.410G>A p.R137Q RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28730458_28730459delAGinsCA c.409_410delAGinsCA p.R137Q RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725277C>T c.410G>A p.R137Q RefSeq GRCh38/hg38
XM_006724116.3 chr22:g.28699892_28699893delGCinsAA c.410_411delGCinsAA p.R137Q RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725277C>T c.410G>A p.R137Q RefSeq GRCh38/hg38
XM_006724116.2 chr22:g.28699892_28699893delGCinsAA c.410_411delGCinsAA p.R137Q RefSeq GRCh38/hg38
NM_145862 chr22:g.28725277C>T c.410G>A p.R137Q 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References