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KIT D820Y - Gene Variant Detail

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Gene KIT
Variant D820Y
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT D820Y lies within the protein kinase domain of the Kit protein (UniProt.org). D820Y results in constitutive phosphorylation of Kit and is transforming in cell culture (PMID: 19035443, PMID: 11984533), and has also been identified as a secondary drug mutation associated with imatinib resistance (PMID: 18488160).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT act mut KIT D820Y

KIT mutant KIT exon17 KIT D820Y

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Transcript NM_000222.3
gDNA chr4:g.54733166G>T
cDNA c.2458G>T
Protein p.D820Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741.1 chr4:g.54733166G>T c.2458G>T p.D820Y RefSeq GRCh38/hg38
NM_000222 chr4:g.54733166G>T c.2458G>T p.D820Y RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733166G>T c.2458G>T p.D820Y RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733166G>T c.2458G>T p.D820Y RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733166G>T c.2458G>T p.D820Y RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733166G>T c.2458G>T p.D820Y 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 Protein Effect Treatment Approaches
KIT D820Y gain of function KIT Inhibitor
KIT V559D KIT D820Y
KIT V555_L576del KIT D820G KIT D820Y
KIT Y568_L576delinsCV KIT D816E KIT D820Y
KIT Y553S KIT W557_Q575del KIT D820Y
KIT exon 11 del KIT D820Y
KIT P551_E554delinsQ KIT S645_L647dup KIT D820Y