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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, Nov 2024). |
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_000222.2 | 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_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 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
KIT M541V | unknown |