Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene CHEK2
Variant H54Pfs*6
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 H54Pfs*6 indicates a shift in the reading frame starting at amino acid 54 and terminating 6 residues downstream causing a premature truncation of the 543 amino acid Chek2 protein (UniProt.org). H54Pfs*6 has not been characterized, however, due to the effects of other truncation mutations downstream of H54 resulting in disruption of the protein kinase domain (PMID: 11053450, PMID: 16982735, PMID: 31050813), is predicted to lead to a loss of Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 H54Pfs*6

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.

Transcript NM_007194.4
gDNA chr22:g.28734561_28734564delTGAG
cDNA c.161_164delACTC
Protein p.H54Pfs*6
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047441105.1 chr22:g.28734561_28734564delTGAG c.161_164delACTC p.H54Pfs*6 RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28734561_28734564delTGAG c.161_164delACTC p.H54Pfs*6 RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28734561_28734564delTGAG c.161_164delACTC p.H54Pfs*6 RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28734561_28734564delTGAG c.161_164delACTC p.H54Pfs*6 RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28734561_28734564delTGAG c.161_164delACTC p.H54Pfs*6 RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.28734561_28734564delTGAG c.161_164delACTC p.H54Pfs*6 RefSeq GRCh38/hg38
XM_047441104.1 chr22:g.28734561_28734564delTGAG c.161_164delACTC p.H54Pfs*6 RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734561_28734564delTGAG c.161_164delACTC p.H54Pfs*6 RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28734561_28734564delTGAG c.161_164delACTC p.H54Pfs*6 RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28734561_28734564delTGAG c.161_164delACTC p.H54Pfs*6 RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734561_28734564delTGAG c.161_164delACTC p.H54Pfs*6 RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28734561_28734564delTGAG c.161_164delACTC p.H54Pfs*6 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.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References