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Gene | KIT |
Variant | W557R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT W557R lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 15790786). W557R has been identified in the scientific literature (PMID: 37371685, PMID: 37311038, PMID: 26848617) 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 exon11 KIT W557R |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727437T>A |
cDNA | c.1669T>A |
Protein | p.W557R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |