KIT V559D
Gene Variant Detail

Request Content

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene KIT
Variant V559D
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT V559D lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 9438854). V559D confers a gain of function on Kit, as indicated by constitutive Kit phosphorylation, and is transforming in cell culture (PMID: 9438854, PMID: 21689725).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT V559D

KIT mutant KIT exon11 KIT V559X KIT V559D

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.

Transcript NM_000222.3
gDNA chr4:g.54727444T>A
cDNA c.1676T>A
Protein p.V559D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54727444T>A c.1676T>A p.V559D RefSeq GRCh38/hg38
NM_000222 chr4:g.54727444T>A c.1676T>A p.V559D RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727444T>A c.1676T>A p.V559D RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727444T>A c.1676T>A p.V559D RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727444T>A c.1676T>A p.V559D RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727444T>A c.1676T>A p.V559D 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 V559D gain of function KIT Inhibitor
KIT V559D KIT D820Y
KIT V559D KIT V654A
KIT V559D KIT T670I
KIT V559D KIT N822K
KIT V559D KIT Y823D
KIT V559D KIT A829P
KIT V559D KIT D820G
CTNNB1 del exon3-4 KIT V559D KIT T670I
CTNNB1 mut KIT V559D KIT T670I
ATM R3008H KIT V559D KIT D579del KIT D820Y KIT A829P