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Gene | KIT |
Variant | D820G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT D820G lies within the protein kinase domain of the Kit protein (UniProt.org). D820G has been identified as a secondary mutation associated with imatinib resistance (PMID: 18488160), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
KIT mutant KIT exon17 KIT D820G |
Transcript | NM_000222.3 |
gDNA | chr4:g.54733167A>G |
cDNA | c.2459A>G |
Protein | p.D820G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005265741.1 | chr4:g.54733167A>G | c.2459A>G | p.D820G | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54733167A>G | c.2459A>G | p.D820G | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54733167A>G | c.2459A>G | p.D820G | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54733167A>G | c.2459A>G | p.D820G | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54733167A>G | c.2459A>G | p.D820G | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54733167A>G | c.2459A>G | p.D820G | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
KIT D820G | unknown | KIT Inhibitor |
KIT W557_K558del KIT D820G | ||
KIT W557Lfs*5 KIT P577del KIT D820G | ||
KIT V559D KIT D820G | ||
KIT V555_L576del KIT D820G KIT D820Y | ||
KIT exon 11 del KIT D820G | ||
KIT D820G KIT N822K | ||
KIT V560D KIT D820G KIT N822K KIT Y870* |