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Gene KIT
Variant P573L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT P573L lies within the juxtamembrane domain of the Kit protein (PMID: 12879016). P573L has been identified in the scientific literature (PMID: 30171333, PMID: 21680547), 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 P573L

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Transcript NM_000222.3
gDNA chr4:g.54727486C>T
cDNA c.1718C>T
Protein p.P573L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001093772.2 chr4:g.54727498C>T c.1718C>T p.P573L RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727498C>T c.1718C>T p.P573L RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727486C>T c.1718C>T p.P573L RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727498C>T c.1718C>T p.P573L RefSeq GRCh38/hg38
XM_017008180 chr4:g.54727498C>T c.1718C>T p.P573L RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727486C>T c.1718C>T p.P573L RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54727498C>T c.1718C>T p.P573L RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727486C>T c.1718C>T p.P573L RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727486C>T c.1718C>T p.P573L RefSeq GRCh38/hg38
NM_000222 chr4:g.54727486C>T c.1718C>T p.P573L RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727486C>T c.1718C>T p.P573L RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54727498C>T c.1718C>T p.P573L 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

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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
KIT P573L unknown