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Gene KIT
Variant Y553N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT Y553N lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y553N is predicted to stabilize the active conformation of Kit by structural modeling (PMID: 23588081), 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 Y553N

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Transcript NM_000222.3
gDNA chr4:g.54727425T>A
cDNA c.1657T>A
Protein p.Y553N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178 chr4:g.54727425T>A c.1657T>A p.Y553N RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727425T>A c.1657T>A p.Y553N RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727425T>A c.1657T>A p.Y553N RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727425T>A c.1657T>A p.Y553N RefSeq GRCh38/hg38
NM_000222 chr4:g.54727425T>A c.1657T>A p.Y553N RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727425T>A c.1657T>A p.Y553N 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 Y553N unknown KIT Inhibitor