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Gene KIT
Variant R634W
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT R634W lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). R634W confers a gain of function to the Kit protein as demonstrated by constitutive Kit phosphorylation, increased Stat3 and Stat5 phosphorylation, and is transforming in cell culture (PMID: 15790786).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT R634W

KIT mutant KIT exon13 KIT R634W

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Transcript NM_000222.3
gDNA chr4:g.54728031C>T
cDNA c.1900C>T
Protein p.R634W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385285.1 chr4:g.54728031C>T c.1900C>T p.R634W RefSeq GRCh38/hg38
NM_000222 chr4:g.54728031C>T c.1900C>T p.R634W RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54728031C>T c.1900C>T p.R634W RefSeq GRCh38/hg38
XM_017008178 chr4:g.54728031C>T c.1900C>T p.R634W RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54728031C>T c.1900C>T p.R634W RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54728031C>T c.1900C>T p.R634W 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 R634W gain of function KIT Inhibitor