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Gene KIT
Variant R888Q
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions KIT R888Q lies within the protein kinase domain of the Kit protein (UniProt.org). R888Q results in decreased SCF-induced Kit activation in culture (PMID: 23020152), and therefore, is predicted to lead to a loss of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT R888Q

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Transcript NM_000222.3
gDNA chr4:g.54736787G>A
cDNA c.2663G>A
Protein p.R888Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54736787G>A c.2663G>A p.R888Q RefSeq GRCh38/hg38
XM_005265741 chr4:g.54736787G>A c.2663G>A p.R888Q RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54736787G>A c.2663G>A p.R888Q RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54736787G>A c.2663G>A p.R888Q RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54736787G>A c.2663G>A p.R888Q RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54736787G>A c.2663G>A p.R888Q 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 R888Q loss of function - predicted