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 KIT
Variant T417_D419delinsRA
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT T417_D419delinsRA results in the deletion of three amino acids in the extracellular domain of the Kit protein from amino acids 417 to 419, combined with the insertion of an arginine (R) and an alanine (A) at the same site (UniProt.org). T417_D419delinsRA has not been characterized, however similar Kit exon 8 mutations are activating (PMID: 16015387, PMID: 20484085), and therefore, is predicted to lead to a gain of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT T417_D419delinsRA

KIT mutant KIT exon8 KIT T417_D419delinsRA

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.54723601_54723609delinsAGGGCA
cDNA c.1249_1257delinsAGGGCA
Protein p.T417_D419delinsRA
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001093772 chr4:g.54723601_54723609delinsAGGGCA c.1249_1257delinsAGGGCA p.T417_D419delinsRA RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54723601_54723609delinsAGGGCA c.1249_1257delinsAGGGCA p.T417_D419delinsRA RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54723601_54723609delinsAGGGCA c.1249_1257delinsAGGGCA p.T417_D419delinsRA RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54723601_54723609delinsAGGGCA c.1249_1257delinsAGGGCA p.T417_D419delinsRA RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54723601_54723609delinsAGGGCA c.1249_1257delinsAGGGCA p.T417_D419delinsRA RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54723601_54723609delinsAGGGCA c.1249_1257delinsAGGGCA p.T417_D419delinsRA RefSeq GRCh38/hg38
NM_000222 chr4:g.54723601_54723609delinsAGGGCA c.1249_1257delinsAGGGCA p.T417_D419delinsRA RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54723601_54723609delinsAGGGCA c.1249_1257delinsAGGGCA p.T417_D419delinsRA RefSeq GRCh38/hg38
XM_017008178 chr4:g.54723601_54723609delinsAGGGCA c.1249_1257delinsAGGGCA p.T417_D419delinsRA RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54723601_54723609delinsAGGGCA c.1249_1257delinsAGGGCA p.T417_D419delinsRA RefSeq GRCh38/hg38
XM_017008180 chr4:g.54723601_54723609delinsAGGGCA c.1249_1257delinsAGGGCA p.T417_D419delinsRA RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54723601_54723609delinsAGGGCA c.1249_1257delinsAGGGCA p.T417_D419delinsRA 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 Protein Effect Treatment Approaches
KIT T417_D419delinsRA gain of function - predicted KIT Inhibitor