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 | D816G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | KIT D816G lies within the protein kinase domain of the Kit protein (UniProt.org). D816G results in constitutive phosphorylation of Kit, is transforming in culture, and confers resistance to crizotinib (PMID: 27068398). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT act mut KIT D816G KIT mutant KIT exon17 KIT D816X KIT D816G |
Transcript | NM_000222.3 |
gDNA | chr4:g.54733155A>G |
cDNA | c.2447A>G |
Protein | p.D816G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |