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Gene KIT
Variant P551H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT P551H lies within the juxtamembrane domain of the Kit protein (PMID: 16226710). P551H has been identified in sequencing studies (PMID: 17200352, PMID: 15930355) 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 P551H

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Transcript NM_000222.3
gDNA chr4:g.54727420C>A
cDNA c.1652C>A
Protein p.P551H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54727420C>A c.1652C>A p.P551H RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727420C>A c.1652C>A p.P551H RefSeq GRCh38/hg38
NM_000222 chr4:g.54727420C>A c.1652C>A p.P551H RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727420C>A c.1652C>A p.P551H RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727420C>A c.1652C>A p.P551H RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727420C>A c.1652C>A p.P551H 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References