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Gene | KIT |
Variant | R888W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT R888W lies within the protein kinase domain of the Kit protein (UniProt.org). R888W has been identified in sequencing studies (PMID: 31768065, PMID: 30393068) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT R888W |
Transcript | NM_000222.3 |
gDNA | chr4:g.54736786C>T |
cDNA | c.2662C>T |
Protein | p.R888W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001385290.1 | chr4:g.54736786C>T | c.2662C>T | p.R888W | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54736786C>T | c.2662C>T | p.R888W | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54736786C>T | c.2662C>T | p.R888W | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54736786C>T | c.2662C>T | p.R888W | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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