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@jax.org

Gene KEAP1
Variant L115Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KEAP1 L115Q lies within the BTB domain of the Keap1 protein (UniProt.org). L115Q has been identified in the scientific literature (PMID: 32571982), but has not been biochemically characterized and therefore, its effect on Keap1 protein function is unknown (PubMed, Nov 2023).
Associated Drug Resistance
Category Variants Paths

KEAP1 mutant KEAP1 L115Q

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_203500.2
gDNA chr19:g.10499690A>T
cDNA c.344T>A
Protein p.L115Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005260174.1 chr19:g.10499690A>T c.344T>A p.L115Q RefSeq GRCh38/hg38
XM_011528452 chr19:g.10499690A>T c.344T>A p.L115Q RefSeq GRCh38/hg38
XM_005260173 chr19:g.10499690A>T c.344T>A p.L115Q RefSeq GRCh38/hg38
NM_012289 chr19:g.10499690A>T c.344T>A p.L115Q RefSeq GRCh38/hg38
XM_005260173.1 chr19:g.10499690A>T c.344T>A p.L115Q RefSeq GRCh38/hg38
XM_005260174 chr19:g.10499690A>T c.344T>A p.L115Q RefSeq GRCh38/hg38
NM_203500 chr19:g.10499690A>T c.344T>A p.L115Q RefSeq GRCh38/hg38
NM_203500.1 chr19:g.10499690A>T c.344T>A p.L115Q RefSeq GRCh38/hg38
XM_011528452.1 chr19:g.10499690A>T c.344T>A p.L115Q RefSeq GRCh38/hg38
NM_203500.2 chr19:g.10499690A>T c.344T>A p.L115Q RefSeq GRCh38/hg38
NM_012289.3 chr19:g.10499690A>T c.344T>A p.L115Q RefSeq GRCh38/hg38
NM_012289.4 chr19:g.10499690A>T c.344T>A p.L115Q 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