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 R379*
Impact List nonsense
Protein Effect gain of function - predicted
Gene Variant Descriptions CHEK1 R379* results in a premature truncation of the Chek1 protein at amino acid 379 of 476 (UniProt.org). R379* has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of R379 (PMID: 14681223), is predicted to lead to a gain of Chek1 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK1 mutant CHEK1 act mut CHEK1 R379*

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.125644545C>T
cDNA c.1135C>T
Protein p.R379*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024448337.2 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
XM_017017146.2 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
NM_001114122.3 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
XM_024448337.1 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
NM_001114122.2 chr11:g.125644545C>T c.1135C>T p.R379* RefSeq GRCh38/hg38
XM_047426311.1 chr11:g.125644545C>T c.1135C>T p.R379* 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