Gene Variant Detail

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Gene CHEK2
Variant E107_K197del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 E107_K197del results in the deletion of ninety one amino acids in the Chek2 protein from amino acid 107 to 197 (UniProt.org). E107_K197del results in decreased cell proliferation compared to wild-type Chek2 in a yeast assay (PMID: 30851065), and therefore, is predicted to lead to a loss of Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 E107_K197del

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Transcript NM_007194.4
gDNA chr22:g.28724978_28734403del9426
cDNA c.319+5_592+4del9426
Protein p.E107_K197del91
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001005735.2 chr22:g.28725107_28734403del9297 c.319_591del9297 p.E107_N197del91 RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.28725072_28734404del9333 c.319+2_593del9333 p.E107_N197del91 RefSeq GRCh38/hg38
XM_006724116.3 chr22:g.28695835_28703551del7717 c.319_591del7717 p.I107_T197del91 RefSeq GRCh38/hg38
NM_001005735 chr22:g.28725107_28734403del9297 c.319_591del9297 p.E107_N197del91 RefSeq GRCh38/hg38
XM_024452148.2 chr22:g.28725008_28734433del9426 c.319_591del9426 p.W107_S197del91 RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28724978_28734403del9426 c.319+5_592+4del9426 p.E107_K197del91 RefSeq GRCh38/hg38
XM_011529840 chr22:g.28725255_28734433del9179 c.319_591del9179 p.W107_F197del91 RefSeq GRCh38/hg38
XM_017028561 chr22:g.28695716_28699865del4150 c.319_591del4150 p.F107_F197del91 RefSeq GRCh38/hg38
XM_006724116.2 chr22:g.28695835_28703551del7717 c.319_591del7717 p.I107_T197del91 RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28724907_28734404del9498 c.319_591del9498 p.E107_C197del91 RefSeq GRCh38/hg38
XM_011529845.3 chr22:g.28695716_28699865del4150 c.319_591del4150 p.F107_F197del91 RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28724978_28734403del9426 c.319+5_592+4del9426 p.E107_K197del91 RefSeq GRCh38/hg38
XM_047441108.1 chr22:g.28695812_28710054del14243 c.319_591del14243 p.A107_G197del91 RefSeq GRCh38/hg38
NM_001257387 chr22:g.28695716_28699865del4150 c.319_591del4150 p.F107_F197del91 RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28724978_28734403del9426 c.319+5_592+4del9426 p.E107_K197del91 RefSeq GRCh38/hg38
NM_007194 chr22:g.28724978_28734403del9426 c.319+5_592+4del9426 p.E107_K197del91 RefSeq GRCh38/hg38
XM_011529841 chr22:g.28724907_28734404del9498 c.319_591del9498 p.E107_C197del91 RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28711909_28734403del22495 c.319+1_591+1del22495 p.E107_A197del91 RefSeq GRCh38/hg38
XM_011529839 chr22:g.28725255_28734433del9179 c.319_591del9179 p.W107_F197del91 RefSeq GRCh38/hg38
XM_011529845 chr22:g.28695716_28699865del4150 c.319_591del4150 p.F107_F197del91 RefSeq GRCh38/hg38
XM_006724114.3 chr22:g.28696958_28711935del14978 c.319_591del14978 p.F107_R197del91 RefSeq GRCh38/hg38
XM_006724114.4 chr22:g.28696925_28710053del13129 c.319_591del13129 p.A107_S197del91 RefSeq GRCh38/hg38
XM_011529839.3 chr22:g.28725255_28734433del9179 c.319_591del9179 p.W107_F197del91 RefSeq GRCh38/hg38
XM_047441104.1 chr22:g.28725072_28734404del9333 c.319+2_593del9333 p.E107_N197del91 RefSeq GRCh38/hg38
XM_047441107.1 chr22:g.28725255_28734433del9179 c.319_591del9179 p.W107_F197del91 RefSeq GRCh38/hg38
XM_024452149.1 chr22:g.28725008_28734433del9426 c.319_591del9426 p.W107_S197del91 RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28711909_28734403del22495 c.319+1_591+1del22495 p.E107_A197del91 RefSeq GRCh38/hg38
XM_011529840.3 chr22:g.28725255_28734433del9179 c.319_591del9179 p.W107_F197del91 RefSeq GRCh38/hg38
XM_017028560.1 chr22:g.28725101_28734433del9333 c.319_591del9333 p.W107_Y197del91 RefSeq GRCh38/hg38
XM_011529840.4 chr22:g.28725255_28734433del9179 c.319_591del9179 p.W107_F197del91 RefSeq GRCh38/hg38
XM_011529842.2 chr22:g.28711939_28734433del22495 c.319_591del22495 p.W107_R197del91 RefSeq GRCh38/hg38
XM_011529842 chr22:g.28711939_28734433del22495 c.319_591del22495 p.W107_R197del91 RefSeq GRCh38/hg38
XM_024452148.1 chr22:g.28725008_28734433del9426 c.319_591del9426 p.W107_S197del91 RefSeq GRCh38/hg38
XM_017028560 chr22:g.28725101_28734433del9333 c.319_591del9333 p.W107_Y197del91 RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28725107_28734403del9297 c.319_591del9297 p.E107_N197del91 RefSeq GRCh38/hg38
XM_017028560.2 chr22:g.28725101_28734433del9333 c.319_591del9333 p.W107_Y197del91 RefSeq GRCh38/hg38
XM_017028561.2 chr22:g.28695716_28699865del4150 c.319_591del4150 p.F107_F197del91 RefSeq GRCh38/hg38
XM_011529843 chr22:g.28711909_28734403del22495 c.319+1_591+1del22495 p.E107_A197del91 RefSeq GRCh38/hg38
NM_145862 chr22:g.28724978_28734403del9426 c.319+5_592+4del9426 p.E107_K197del91 RefSeq GRCh38/hg38
XM_011529845.2 chr22:g.28695716_28699865del4150 c.319_591del4150 p.F107_F197del91 RefSeq GRCh38/hg38
XM_011529842.3 chr22:g.28711939_28734433del22495 c.319_591del22495 p.W107_R197del91 RefSeq GRCh38/hg38
XM_011529844.3 chr22:g.28725255_28734433del9179 c.319_591del9179 p.W107_F197del91 RefSeq GRCh38/hg38
NM_001257387.2 chr22:g.28695716_28699865del4150 c.319_591del4150 p.F107_F197del91 RefSeq GRCh38/hg38
XM_006724116 chr22:g.28695835_28703551del7717 c.319_591del7717 p.I107_T197del91 RefSeq GRCh38/hg38
NM_001257387.1 chr22:g.28695716_28699865del4150 c.319_591del4150 p.F107_F197del91 RefSeq GRCh38/hg38
XM_011529844.2 chr22:g.28725255_28734433del9179 c.319_591del9179 p.W107_F197del91 RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28724978_28734403del9426 c.319+5_592+4del9426 p.E107_K197del91 RefSeq GRCh38/hg38
XM_024452149.2 chr22:g.28725008_28734433del9426 c.319_591del9426 p.W107_S197del91 RefSeq GRCh38/hg38
XM_011529844 chr22:g.28725255_28734433del9179 c.319_591del9179 p.W107_F197del91 RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28725107_28734403del9297 c.319_591del9297 p.E107_N197del91 RefSeq GRCh38/hg38
XM_006724114 chr22:g.28696958_28711935del14978 c.319_591del14978 p.F107_R197del91 RefSeq GRCh38/hg38
XM_011529839.2 chr22:g.28725255_28734433del9179 c.319_591del9179 p.W107_F197del91 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