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 | E839K |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | KIT E839K lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 17555444). E839K results in impaired Kit protein maturation, a loss of Kit phosphorylation, and dominant inhibition of activating Kit mutations in cultured cells (PMID: 9990072, PMID: 15790786). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT exon18 KIT E839K |
Transcript | NM_000222.3 |
gDNA | chr4:g.54736528G>A |
cDNA | c.2515G>A |
Protein | p.E839K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000222.3 | chr4:g.54736528G>A | c.2515G>A | p.E839K | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54736528G>A | c.2515G>A | p.E839K | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54736528G>A | c.2515G>A | p.E839K | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54736528G>A | c.2515G>A | p.E839K | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54736528G>A | c.2515G>A | p.E839K | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54736528G>A | c.2515G>A | p.E839K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
KIT E839K | loss of function |