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Gene | KIT |
Variant | V603D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT V603D lies within the protein kinase domain of the Kit protein (UniProt.org). V603D has been identified in the scientific literature (PMID: 33747576), 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 V603D |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727856T>A |
cDNA | c.1808T>A |
Protein | p.V603D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017008178.1 | chr4:g.54727856T>A | c.1808T>A | p.V603D | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54727856T>A | c.1808T>A | p.V603D | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54727856T>A | c.1808T>A | p.V603D | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54727856T>A | c.1808T>A | p.V603D | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54727856T>A | c.1808T>A | p.V603D | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54727856T>A | c.1808T>A | p.V603D | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
KIT V603D | unknown |