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Gene | KIT |
Variant | P874L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT P874L lies within the protein kinase domain of the Kit protein (UniProt.org). P874L corresponds to P875L in an alternate isoform, which results in similar levels of autophosphorylation but decreased transformation relative to wild-type in culture (PMID: 30926633), and therefore, its effect on Kit protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT P874L |
Transcript | NM_000222.3 |
gDNA | chr4:g.54736745C>T |
cDNA | c.2621C>T |
Protein | p.P874L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000222.3 | chr4:g.54736745C>T | c.2621C>T | p.P874L | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54736745C>T | c.2621C>T | p.P874L | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54736745C>T | c.2621C>T | p.P874L | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54736745C>T | c.2621C>T | p.P874L | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54736745C>T | c.2621C>T | p.P874L | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54736745C>T | c.2621C>T | p.P874L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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