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Gene | KIT |
Variant | T22A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT T22A lies within the signal peptide region of the Kit protein (UniProt.org). T22A has been identified in sequencing studies (PMID: 21720365), 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 T22A |
Transcript | NM_000222.3 |
gDNA | chr4:g.54658078A>G |
cDNA | c.64A>G |
Protein | p.T22A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001093772.1 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
NM_001385292.1 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
XM_005265740.1 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
NM_001385286.1 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
NM_001093772.2 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
NM_001093772 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
XM_005265742.3 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
NM_001385284.1 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
XM_005265740 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
XM_005265742 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
XM_017008179 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
XM_017008180 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
NM_001385288.1 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
XM_017008180.1 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
XM_017008179.1 | chr4:g.54658078A>G | c.64A>G | p.T22A | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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