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Gene | KIT |
Variant | D816Y |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | KIT D816Y lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 21640708). D816Y results in constitutive phosphorylation of Kit, activation of Akt and Mapk pathways in cultured cells (PMID: 21640708, PMID: 16397263), and confers resistance to imatinib in culture (PMID: 16397263). |
Associated Drug Resistance | Y |
Category Variants Paths |
KIT mutant KIT act mut KIT D816Y KIT mutant KIT exon17 KIT D816X KIT D816Y |
Transcript | NM_000222.3 |
gDNA | chr4:g.54733154G>T |
cDNA | c.2446G>T |
Protein | p.D816Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017008179.1 | chr4:g.54733166G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54733154G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
XM_017008179 | chr4:g.54733166G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
NM_001385292.1 | chr4:g.54733166G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54733154G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54733154G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
NM_001093772.1 | chr4:g.54733166G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54733154G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
NM_001093772 | chr4:g.54733166G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
NM_001093772.2 | chr4:g.54733166G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54733154G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54733154G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
KIT D816Y | gain of function | KIT Inhibitor Avapritinib |