Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | KIT |
| Variant | V555I |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT V555I lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). V555I has been identified in the scientific literature (PMID: 30851333, PMID: 32944848, PMID: 35642348), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
KIT mutant KIT exon11 KIT V555I |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54727431G>A |
| cDNA | c.1663G>A |
| Protein | p.V555I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000222 | chr4:g.54727431G>A | c.1663G>A | p.V555I | RefSeq | GRCh38/hg38 |
| NM_001093772.2 | chr4:g.54727443G>A | c.1663G>A | p.V555I | RefSeq | GRCh38/hg38 |
| XM_017008178.1 | chr4:g.54727431G>A | c.1663G>A | p.V555I | RefSeq | GRCh38/hg38 |
| XM_017008180.1 | chr4:g.54727443G>A | c.1663G>A | p.V555I | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54727431G>A | c.1663G>A | p.V555I | RefSeq | GRCh38/hg38 |
| XM_017008178 | chr4:g.54727431G>A | c.1663G>A | p.V555I | RefSeq | GRCh38/hg38 |
| NM_001093772.1 | chr4:g.54727443G>A | c.1663G>A | p.V555I | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54727431G>A | c.1663G>A | p.V555I | RefSeq | GRCh38/hg38 |
| XM_017008180 | chr4:g.54727443G>A | c.1663G>A | p.V555I | RefSeq | GRCh38/hg38 |
| NM_001093772 | chr4:g.54727443G>A | c.1663G>A | p.V555I | RefSeq | GRCh38/hg38 |
| NM_001385285.1 | chr4:g.54727431G>A | c.1663G>A | p.V555I | RefSeq | GRCh38/hg38 |
| NM_001385286.1 | chr4:g.54727443G>A | c.1663G>A | p.V555I | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|