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Gene KIT
Variant P551I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT P551I lies within the juxtamembrane domain of the Kit protein (PMID: 16226710). P551I has been identified in the scientific literature (PMID: 18294292), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon11 KIT P551I

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Transcript NM_000222.3
gDNA chr4:g.54727419_54727420delCCinsAT
cDNA c.1651_1652delCCinsAT
Protein p.P551I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385285.1 chr4:g.54727419_54727420delCCinsAT c.1651_1652delCCinsAT p.P551I RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727419_54727420delCCinsAT c.1651_1652delCCinsAT p.P551I RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727419_54727420delCCinsAT c.1651_1652delCCinsAT p.P551I RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727419_54727420delCCinsAT c.1651_1652delCCinsAT p.P551I 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