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 CHEK1
Variant H243fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions CHEK1 H243fs results in a change in the amino acid sequence of the Chek1 protein beginning at aa 243 of 476, likely resulting in premature truncation of the functional protein (UniProt.org). H243fs has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

CHEK1 mutant CHEK1 H243fs

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_001114121.2
gDNA chr11:g.(125637456_125637457)
cDNA c.(727_726)
Protein p.H243fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017146.2 chr11:g.(125637456_125637457) c.(727_726) p.H243fs RefSeq GRCh38/hg38
XM_017017146 chr11:g.(125637456_125637457) c.(727_726) p.H243fs RefSeq GRCh38/hg38
XM_024448337.2 chr11:g.(125637456_125637457) c.(727_726) p.H243fs RefSeq GRCh38/hg38
NM_001114122 chr11:g.(125637456_125637457) c.(727_726) p.H243fs RefSeq GRCh38/hg38
NM_001274 chr11:g.(125637456_125637457) c.(727_726) p.H243fs RefSeq GRCh38/hg38
NM_001114122.3 chr11:g.(125637456_125637457) c.(727_726) p.H243fs RefSeq GRCh38/hg38
XM_047426311.1 chr11:g.(125637456_125637457) c.(727_726) p.H243fs RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.(125637456_125637457) c.(727_726) p.H243fs RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.(125637456_125637457) c.(727_726) p.H243fs RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.(125637456_125637457) c.(727_726) p.H243fs RefSeq GRCh38/hg38
XM_024448337.1 chr11:g.(125637456_125637457) c.(727_726) p.H243fs RefSeq GRCh38/hg38
NM_001274.5 chr11:g.(125637456_125637457) c.(727_726) p.H243fs RefSeq GRCh38/hg38
NM_001244846 chr11:g.(125637456_125637457) c.(727_726) p.H243fs RefSeq GRCh38/hg38
NM_001274.5 chr11:g.(125637456_125637457) c.(727_726) p.H243fs RefSeq GRCh38/hg38
NM_001114122.2 chr11:g.(125637456_125637457) c.(727_726) p.H243fs RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.(125637456_125637457) c.(727_726) p.H243fs RefSeq GRCh38/hg38
NM_001114121 chr11:g.(125637456_125637457) c.(727_726) p.H243fs 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