Gene Variant Detail

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Gene KIT
Variant T632I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT T632I lies within the protein kinase domain of the Kit protein (UniProt.org). T632I is associated with resistance to select KIT inhibitors (PMID: 31043947), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT exon13 KIT T632I

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Transcript NM_000222.3
gDNA chr4:g.54728026C>T
cDNA c.1895C>T
Protein p.T632I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178.1 chr4:g.54728026C>T c.1895C>T p.T632I RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54728026C>T c.1895C>T p.T632I RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54728026C>T c.1895C>T p.T632I RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54728026C>T c.1895C>T p.T632I RefSeq GRCh38/hg38
XM_017008178 chr4:g.54728026C>T c.1895C>T p.T632I RefSeq GRCh38/hg38
NM_000222 chr4:g.54728026C>T c.1895C>T p.T632I 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT T632I melanoma predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in worsened condition and continued disease progression and metastasis in a patient with metastatic melanoma harboring KIT T632I (PMID: 31043947). 31043947