KIT A829P - Gene Variant Detail

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Gene KIT
Variant A829P
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT A829P lies within the protein kinase domain of the Kit protein (UniProt.org). A829P results in constitutive phosphorylation of Kit, activation of Akt and Erk signaling, and confers acquired resistance to imatinib in culture (PMID: 23582185).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT act mut KIT A829P

KIT mutant KIT exon18 KIT A829P

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Transcript NM_000222.3
gDNA chr4:g.54736498G>C
cDNA c.2485G>C
Protein p.A829P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54736498G>C c.2485G>C p.A829P RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54736498G>C c.2485G>C p.A829P RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54736498G>C c.2485G>C p.A829P RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54736498G>C c.2485G>C p.A829P RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54736498G>C c.2485G>C p.A829P RefSeq GRCh38/hg38
XM_005265741 chr4:g.54736498G>C c.2485G>C p.A829P 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries