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 KIT
Variant L416fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions KIT L416fs results in a change in the amino acid sequence of the Kit protein beginning at aa 416 of 976, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), L416fs is predicted to lead to a loss of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon8 KIT L416fs

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_000222.3
gDNA chr4:g.(54723597_54723598)
cDNA c.(1246_1245)
Protein p.L416fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001093772 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
XM_017008178 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
NM_000222.2 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
XM_017008180 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
NM_000222.3 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
NM_000222 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs 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