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@jax.org

Gene KIT
Variant D816V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT D816V lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 19865100). D816V results in constitutive phosphorylation of Kit, activation of Stat5 signaling (PMID: 19865100, PMID: 18390729), induces mastocytosis and tumor formation in mice (PMID: 21148330) and confers resistance to Kit inhibitors (PMID: 22301675, PMID: 19164557).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT act mut KIT D816V

KIT mutant KIT exon17 KIT D816X KIT D816V

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.54733155A>T
cDNA c.2447A>T
Protein p.D816V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385290.1 chr4:g.54733155A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733155A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733155A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54733167A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54733167A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54733167A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733155A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
NM_000222 chr4:g.54733155A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
NM_001093772 chr4:g.54733167A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
XM_017008179 chr4:g.54733167A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733155A>T c.2447A>T p.D816V RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54733167A>T c.2447A>T p.D816V 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
KIT V560G KIT D816V mast-cell leukemia sensitive Dasatinib Preclinical Actionable In a preclinical study, Sprycel (dasatinib) inhibited growth and induced apoptosis in a mast-cell leukemia cell line harboring both KIT V560G and KIT D816V in culture (PMID: 18024392). 18024392
KIT V560G KIT D816V mast-cell leukemia sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited growth of a human mast cell line harboring both KIT V560G and KIT D816V in culture (PMID: 24552773). 24552773
KIT V560G KIT D816V mast cell neoplasm resistant Quizartinib Preclinical Actionable In a preclinical study, KIT D816V conferred resistance to Quizartinib in a mast cell line harboring both KIT V560G and KIT D816V in culture (PMID: 23497317). 23497317
KIT V560G KIT D816V mast-cell leukemia sensitive BPR1J373 Preclinical - Cell culture Actionable In a preclinical study, a mast-cell leukemia cell line simultaneously harboring KIT D816V and KIT V560G was sensitive to BPR1J373 in culture, demonstrating inhibition of Kit phosphorylation and apoptotic activity (PMID: 27512117). 27512117
KIT V560G KIT D816V mast-cell leukemia sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and proliferation of a mast cell leukemia cell line harboring KIT D816V and V560G in culture (PMID: 29093181). 29093181
KIT V560G KIT D816V mast cell neoplasm sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited proliferation of mast cells harboring KIT D816V and KIT V560G in culture, and inhibited tumor growth in cell line xenograft models (PMID: 31085175). 31085175
KIT V560G KIT D816V mast cell neoplasm sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, Rydapt (midostaurin) inhibited proliferation of mast cells harboring KIT D816V and KIT V560G in culture (PMID: 31085175). 31085175
KIT V560G KIT D816V mast cell neoplasm sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited proliferation of mast cells harboring KIT D816V and KIT V560G in culture (PMID: 31085175). 31085175
KIT V560G KIT D816V mast cell neoplasm resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, mast cells harboring both KIT D816V and KIT V560G were resistant to Gleevec (imatinib) in culture (PMID: 31085175). 31085175
KIT V560G KIT D816V mast cell neoplasm resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, mast cells harboring both KIT D816V and KIT V560G were resistant to Sutent (sunitinib) in culture (PMID: 31085175). 31085175
KIT V560G KIT D816V mast cell neoplasm resistant Regorafenib Preclinical - Cell culture Actionable In a preclinical study, mast cells harboring both KIT D816V and KIT V560G were resistant to Stivarga (regorafenib) in culture (PMID: 31085175). 31085175
KIT V560G KIT D816V Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560G and D816V demonstrated resistance to Gleevec (imatinib) treatment in culture (PMID: 30523507). 30523507
KIT V560G KIT D816V Advanced Solid Tumor sensitive PLX9486 Preclinical - Cell culture Actionable In a preclinical study, PLX9486 treatment inhibited proliferation of Gleevec (imatinib)-resistant transformed cells expressing KIT V560G and D816V in culture (PMID: 30523507). 30523507
KIT D816V NRAS Q61R melanoma no benefit Pembrolizumab + Trametinib Case Reports/Case Series Actionable In a clinical case study, a melanoma patient harboring KIT D816V and NRAS Q61R demonstrated progressive disease when treated with a combination of Mekinist (trametinib) and Keytruda (pembrolizumab) (PMID: 28514312). 28514312
KIT T670I KIT D816V Advanced Solid Tumor decreased response Midostaurin Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670I demonstrated a decreased response compared to cells expressing KIT D816V alone when treated with Rydapt (midostaurin) in culture (PMID: 31270078). 31270078
KIT T670I KIT D816V Advanced Solid Tumor resistant Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670I demonstrated resistance to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078). 31270078
KIT N655K KIT D816V Advanced Solid Tumor resistant Midostaurin Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT N655K demonstrated resistance to treatment with Rydapt (midostaurin) in culture compared to cells expressing KIT D816V alone (PMID: 31270078). 31270078
KIT N655K KIT D816V Advanced Solid Tumor predicted - sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT N655K demonstrated some sensitivity to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078). 31270078
KIT Y672C KIT D816V Advanced Solid Tumor decreased response Midostaurin Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT Y672C demonstrated a decreased response compared to cells expressing KIT D816V alone when treated with Rydapt (midostaurin) in culture (PMID: 31270078). 31270078
KIT Y672C KIT D816V Advanced Solid Tumor predicted - sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT Y672C demonstrated some sensitivity to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078). 31270078
KIT D677N KIT D816V Advanced Solid Tumor resistant Midostaurin Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT D677N demonstrated resistance to treatment with Rydapt (midostaurin) in culture compared to cells expressing KIT D816V alone (PMID: 31270078). 31270078
KIT D677N KIT D816V Advanced Solid Tumor predicted - sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT D677N demonstrated some sensitivity to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078). 31270078
KIT V654A KIT D816V Advanced Solid Tumor resistant Midostaurin Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT V654A demonstrated resistance to treatment with Rydapt (midostaurin) in culture compared to cells expressing KIT D816V alone (PMID: 31270078). 31270078
KIT V654A KIT D816V Advanced Solid Tumor predicted - sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT V654A demonstrated some sensitivity to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078). 31270078
KIT T670V KIT D816V Advanced Solid Tumor predicted - resistant Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670V demonstrated some resistance to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078). 31270078
KIT T670V KIT D816V Advanced Solid Tumor sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670V were sensitive to treatment with Rydapt (midostaurin) in culture, demonstrating decreased cell proliferation (PMID: 31270078). 31270078
KIT T670A KIT D816V Advanced Solid Tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670A demonstrated sensitivity to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078). 31270078
KIT T670A KIT D816V Advanced Solid Tumor sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670A were sensitive to treatment with Rydapt (midostaurin) in culture, demonstrating decreased cell proliferation (PMID: 31270078). 31270078