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Gene | KIT |
Variant | D419G |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | KIT D419G lies within Ig-like C2-type domain 5 of the Kit protein (UniProt.org). D419G does not result in Kit phosphorylation and is not transforming in cultured cells (PMID: 31182436), and therefore, is predicted to have no effect on Kit protein function. |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT exon8 KIT D419G |
Transcript | NM_000222.3 |
gDNA | chr4:g.54723608A>G |
cDNA | c.1256A>G |
Protein | p.D419G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |