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Gene | KIT |
Variant | W853* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT W853* results in a premature truncation of the Kit protein at amino acid 853 of 976 (UniProt.org). W853* has been identified in sequencing studies (PMID: 21325067), 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 exon18 KIT W853* |
Transcript | NM_000222.3 |
gDNA | chr4:g.54736571G>A |
cDNA | c.2558G>A |
Protein | p.W853* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005265741.1 | chr4:g.54736571G>A | c.2558G>A | p.W853* | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54736571G>A | c.2558G>A | p.W853* | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54736571G>A | c.2558G>A | p.W853* | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54736571G>A | c.2558G>A | p.W853* | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54736571G>A | c.2558G>A | p.W853* | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54736571G>A | c.2558G>A | p.W853* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
KIT W853* | unknown |