Gene Variant Detail

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 V560G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT V560G lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 9438854). V560G confers a gain of function to Kit, as indicated by constitutive phosphorylation of Kit and activation of the Jak/Stat pathway (PMID: 7691885, PMID: 23777495, PMID: 31484543), and leads to mislocalization of Kit to endolysosomes in cell culture (PMID: 31484543).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT V560G

KIT mutant KIT exon11 KIT V560G

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.54727447T>G
cDNA c.1679T>G
Protein p.V560G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54727447T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727444T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727444T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727444T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727444T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727444T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
NM_000222 chr4:g.54727447T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727447T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727444T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727447T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727447T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727447T>G c.1679T>G p.V560G 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 V560G gain of function KIT Inhibitor
KIT V560G KIT D816V