Gene Variant Detail

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Gene CHEK2
Variant D265_H282del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions CHEK2 D265_H282del results in the deletion of 18 amino acids within the protein kinase domain of the Chek2 protein from amino acids 265 to 282 (UniProt.org). D265_H282del results in a loss of Kap1 phosphorylation at serine (S)-473 as compared to wild-type Chek2 in in vitro assays and in cell culture (PMID: 31050813).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 D265_H282del

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Transcript NM_007194.4
gDNA chr22:g.28710006_28710059del54
cDNA c.794_846+1del54
Protein p.D265_H282del18
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006724116 chr22:g.28694105_28695167del1063 c.795_848del1063 p.N265_V282del18 RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28710006_28710059del54 c.794_846+1del54 p.D265_H282del18 RefSeq GRCh38/hg38
XM_017028560 chr22:g.28711979_28719409del7431 c.794_847del7431 p.K265_K282del18 RefSeq GRCh38/hg38
XM_011529842.2 chr22:g.28696979_28699882del2904 c.794_847del2904 p.A265_H282del18 RefSeq GRCh38/hg38
XM_047441104.1 chr22:g.28711948_28712001del54 c.793_846del54 p.V265_I282del18 RefSeq GRCh38/hg38
XM_024452148.1 chr22:g.28710036_28711938del1903 c.793_846del1903 p.K265_T282del18 RefSeq GRCh38/hg38
XM_011529845 chr22:g.28689168_28694037del4870 c.793_846del4870 p.L265_N282del18 RefSeq GRCh38/hg38
XM_011529845.2 chr22:g.28689168_28694037del4870 c.793_846del4870 p.L265_N282del18 RefSeq GRCh38/hg38
XM_011529839.2 chr22:g.28712015_28719445del7431 c.793_846del7431 p.Y265_G282del18 RefSeq GRCh38/hg38
XM_011529843 chr22:g.28696950_28699853del2904 c.794_847del2904 p.L265_K282del18 RefSeq GRCh38/hg38
XM_017028561.2 chr22:g.28689168_28694037del4870 c.793_846del4870 p.L265_N282del18 RefSeq GRCh38/hg38
NM_145862 chr22:g.28710006_28710059del54 c.794_846+1del54 p.D265_H282del18 RefSeq GRCh38/hg38
NM_001257387.1 chr22:g.28689168_28694037del4870 c.793_846del4870 p.L265_N282del18 RefSeq GRCh38/hg38
XM_011529840.3 chr22:g.28712015_28719445del7431 c.793_846del7431 p.Y265_G282del18 RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28699928_28703548del3621 c.793_846del3621 p.K265_G282del18 RefSeq GRCh38/hg38
XM_011529844 chr22:g.28712015_28719445del7431 c.793_846del7431 p.Y265_G282del18 RefSeq GRCh38/hg38
XM_006724114.4 chr22:g.28695177_28695230del54 c.793_846del54 p.P265_S282del18 RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28710006_28710059del54 c.794_846+1del54 p.D265_H282del18 RefSeq GRCh38/hg38
XM_006724116.3 chr22:g.28694105_28695167del1063 c.795_848del1063 p.N265_V282del18 RefSeq GRCh38/hg38
XM_011529845.3 chr22:g.28689168_28694037del4870 c.793_846del4870 p.L265_N282del18 RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28710006_28710059del54 c.794_846+1del54 p.D265_H282del18 RefSeq GRCh38/hg38
XM_011529842.3 chr22:g.28696979_28699882del2904 c.794_847del2904 p.A265_H282del18 RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28696950_28699853del2904 c.794_847del2904 p.L265_K282del18 RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.28711948_28712001del54 c.793_846del54 p.V265_I282del18 RefSeq GRCh38/hg38
XM_006724116.2 chr22:g.28694105_28695167del1063 c.795_848del1063 p.N265_V282del18 RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28711984_28719414del7431 c.794_847del7431 p.M265_E282del18 RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28710006_28710059del54 c.794_846+1del54 p.D265_H282del18 RefSeq GRCh38/hg38
XM_011529844.3 chr22:g.28712015_28719445del7431 c.793_846del7431 p.Y265_G282del18 RefSeq GRCh38/hg38
XM_011529840.4 chr22:g.28712015_28719445del7431 c.793_846del7431 p.Y265_G282del18 RefSeq GRCh38/hg38
NM_001005735 chr22:g.28711984_28719414del7431 c.794_847del7431 p.M265_E282del18 RefSeq GRCh38/hg38
XM_017028560.2 chr22:g.28711979_28719409del7431 c.794_847del7431 p.K265_K282del18 RefSeq GRCh38/hg38
XM_006724114.3 chr22:g.28695209_28695729del521 c.793_846del521 p.G265_R282del18 RefSeq GRCh38/hg38
XM_011529841 chr22:g.28699928_28703548del3621 c.793_846del3621 p.K265_G282del18 RefSeq GRCh38/hg38
NM_007194 chr22:g.28710006_28710059del54 c.794_846+1del54 p.D265_H282del18 RefSeq GRCh38/hg38
XM_006724114 chr22:g.28695209_28695729del521 c.793_846del521 p.G265_R282del18 RefSeq GRCh38/hg38
NM_001257387.2 chr22:g.28689168_28694037del4870 c.793_846del4870 p.L265_N282del18 RefSeq GRCh38/hg38
XM_047441108.1 chr22:g.28694082_28695144del1063 c.793_846del1063 p.E265_P282del18 RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28711984_28719414del7431 c.794_847del7431 p.M265_E282del18 RefSeq GRCh38/hg38
XM_011529840 chr22:g.28712015_28719445del7431 c.793_846del7431 p.Y265_G282del18 RefSeq GRCh38/hg38
XM_011529844.2 chr22:g.28712015_28719445del7431 c.793_846del7431 p.Y265_G282del18 RefSeq GRCh38/hg38
XM_024452149.2 chr22:g.28710036_28711938del1903 c.793_846del1903 p.K265_T282del18 RefSeq GRCh38/hg38
XM_011529839 chr22:g.28712015_28719445del7431 c.793_846del7431 p.Y265_G282del18 RefSeq GRCh38/hg38
XM_017028561 chr22:g.28689168_28694037del4870 c.793_846del4870 p.L265_N282del18 RefSeq GRCh38/hg38
XM_011529842 chr22:g.28696979_28699882del2904 c.794_847del2904 p.A265_H282del18 RefSeq GRCh38/hg38
NM_001257387 chr22:g.28689168_28694037del4870 c.793_846del4870 p.L265_N282del18 RefSeq GRCh38/hg38
XM_017028560.1 chr22:g.28711979_28719409del7431 c.794_847del7431 p.K265_K282del18 RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28696950_28699853del2904 c.794_847del2904 p.L265_K282del18 RefSeq GRCh38/hg38
XM_024452148.2 chr22:g.28710036_28711938del1903 c.793_846del1903 p.K265_T282del18 RefSeq GRCh38/hg38
XM_011529839.3 chr22:g.28712015_28719445del7431 c.793_846del7431 p.Y265_G282del18 RefSeq GRCh38/hg38
XM_047441107.1 chr22:g.28703525_28710017del6493 c.793_846del6493 p.K265_D282del18 RefSeq GRCh38/hg38
XM_024452149.1 chr22:g.28710036_28711938del1903 c.793_846del1903 p.K265_T282del18 RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28711984_28719414del7431 c.794_847del7431 p.M265_E282del18 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References