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Gene | KIT |
Variant | N566D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT N566D lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). N566D has been identified in sequencing studies (PMID: 16908931, PMID: 20651400), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT exon11 KIT N566D |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727464A>G |
cDNA | c.1696A>G |
Protein | p.N566D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000222.2 | chr4:g.54727464A>G | c.1696A>G | p.N566D | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54727464A>G | c.1696A>G | p.N566D | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54727464A>G | c.1696A>G | p.N566D | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54727464A>G | c.1696A>G | p.N566D | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54727464A>G | c.1696A>G | p.N566D | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54727464A>G | c.1696A>G | p.N566D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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