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Gene | KIT |
Variant | G498S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT G498S lies within Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). G498S has been identified in the scientific literature (PMID: 31980996) 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 exon9 KIT G498S |
Transcript | NM_000222.3 |
gDNA | chr4:g.54726002G>A |
cDNA | c.1492G>A |
Protein | p.G498S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |