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 | M541V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT M541V lies within the transmembrane domain of the Kit protein (PMID: 16226710). M541V has not been characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
KIT mutant KIT M541V |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54727298A>G |
| cDNA | c.1621A>G |
| Protein | p.M541V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000222.3 | chr4:g.54727298A>G | c.1621A>G | p.M541V | RefSeq | GRCh38/hg38 |
| NM_001385285.1 | chr4:g.54727298A>G | c.1621A>G | p.M541V | RefSeq | GRCh38/hg38 |
| NM_000222 | chr4:g.54727298A>G | c.1621A>G | p.M541V | RefSeq | GRCh38/hg38 |
| XM_017008178 | chr4:g.54727298A>G | c.1621A>G | p.M541V | RefSeq | GRCh38/hg38 |
| XM_017008178.1 | chr4:g.54727298A>G | c.1621A>G | p.M541V | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54727298A>G | c.1621A>G | p.M541V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| KIT M541V | unknown |