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Gene | KIT |
Variant | N822D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT N822D lies within the protein kinase domain of the Kit protein (UniProt.org). N822D has been identified in the scientific literature (PMID: 35091442, PMID: 18294292), 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 exon17 KIT N822D |
Transcript | NM_000222.3 |
gDNA | chr4:g.54733172A>G |
cDNA | c.2464A>G |
Protein | p.N822D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001385290.1 | chr4:g.54733172A>G | c.2464A>G | p.N822D | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54733172A>G | c.2464A>G | p.N822D | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54733172A>G | c.2464A>G | p.N822D | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54733172A>G | c.2464A>G | p.N822D | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
KIT N822D | unknown | |
KIT W557_E561del KIT N822D |