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Gene | KIT |
Variant | R888Q |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | KIT R888Q lies within the protein kinase domain of the Kit protein (UniProt.org). R888Q results in decreased SCF-induced Kit activation in culture (PMID: 23020152), and therefore, is predicted to lead to a loss of Kit protein function. |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT R888Q |
Transcript | NM_000222.3 |
gDNA | chr4:g.54736787G>A |
cDNA | c.2663G>A |
Protein | p.R888Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005265741 | chr4:g.54736787G>A | c.2663G>A | p.R888Q | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54736787G>A | c.2663G>A | p.R888Q | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54736787G>A | c.2663G>A | p.R888Q | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54736787G>A | c.2663G>A | p.R888Q | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54736787G>A | c.2663G>A | p.R888Q | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54736787G>A | c.2663G>A | p.R888Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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