Gene Variant Detail

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Gene KIT
Variant R135H
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions KIT R135H lies within Ig-like C2-type domain 2 of the Kit protein (UniProt.org). R135H results in SCF-induced Kit activation similar to wild-type protein in culture (PMID: 23020152), and therefore, is predicted to have no effect on Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT R135H

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Transcript NM_000222.3
gDNA chr4:g.54698350G>A
cDNA c.404G>A
Protein p.R135H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008180 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_005265740 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_005265742 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_000222 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_017008179 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_017008178 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_005265741 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_001093772 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38

Filtering

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  • 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries