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Gene | KIT |
Variant | V825A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT V825A lies within the protein kinase domain of the Kit protein (UniProt.org). V825A leads to cell growth when combined with the RUNX1-ETO fusion (PMID: 24897507), but has not been characterized individually and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT exon17 KIT V825A |
Transcript | NM_000222.3 |
gDNA | chr4:g.54733182T>C |
cDNA | c.2474T>C |
Protein | p.V825A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000222.2 | chr4:g.54733182T>C | c.2474T>C | p.V825A | RefSeq | GRCh38/hg38 |
NM_001385284.1 | chr4:g.54733179T>C | c.2474T>C | p.V825A | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54733182T>C | c.2474T>C | p.V825A | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54733182T>C | c.2474T>C | p.V825A | RefSeq | GRCh38/hg38 |
XM_005265740 | chr4:g.54733179T>C | c.2474T>C | p.V825A | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54733182T>C | c.2474T>C | p.V825A | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54733182T>C | c.2474T>C | p.V825A | RefSeq | GRCh38/hg38 |
XM_005265740.1 | chr4:g.54733179T>C | c.2474T>C | p.V825A | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54733182T>C | c.2474T>C | p.V825A | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
KIT V825A | unknown | KIT Inhibitor |