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Gene | KIT |
Variant | E228* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | KIT E228* results in a premature truncation of the Kit protein at amino acid 228 of 976 (UniProt.org). Due to a loss of the protein kinase domain (UniProt.org), E228* is predicted to lead to a loss of Kit protein function. |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT E228* |
Transcript | NM_000222.3 |
gDNA | chr4:g.54699692G>T |
cDNA | c.682G>T |
Protein | p.E228* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000222 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
XM_005265740 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
XM_005265742.3 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
XM_017008180.1 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
NM_001385284.1 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
NM_001093772 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
NM_001385288.1 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
XM_017008179 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
XM_017008180 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
NM_001093772.2 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
XM_005265742 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
XM_005265740.1 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
NM_001093772.1 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
XM_017008179.1 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
NM_001385292.1 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
NM_001385286.1 | chr4:g.54699692G>T | c.682G>T | p.E228* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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