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Gene | KIT |
Variant | I371S |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | KIT I371S lies within Ig-like C2-type domain 4 of the Kit protein (UniProt.org). I371S results in SCF-induced Kit activation similar to wild-type protein in culture (PMID: 23020152), and therefore, is predicted to have no effect on Kit protein function. |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT I371S |
Transcript | NM_000222.3 |
gDNA | chr4:g.54707284T>G |
cDNA | c.1112T>G |
Protein | p.I371S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000222.3 | chr4:g.54707284T>G | c.1112T>G | p.I371S | RefSeq | GRCh38/hg38 |
XM_017008180.1 | chr4:g.54707284T>G | c.1112T>G | p.I371S | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54707284T>G | c.1112T>G | p.I371S | RefSeq | GRCh38/hg38 |
XM_017008180 | chr4:g.54707284T>G | c.1112T>G | p.I371S | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54707284T>G | c.1112T>G | p.I371S | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54707284T>G | c.1112T>G | p.I371S | RefSeq | GRCh38/hg38 |
NM_001093772 | chr4:g.54707284T>G | c.1112T>G | p.I371S | RefSeq | GRCh38/hg38 |
NM_001385286.1 | chr4:g.54707284T>G | c.1112T>G | p.I371S | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54707284T>G | c.1112T>G | p.I371S | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54707284T>G | c.1112T>G | p.I371S | RefSeq | GRCh38/hg38 |
NM_001093772.1 | chr4:g.54707284T>G | c.1112T>G | p.I371S | RefSeq | GRCh38/hg38 |
NM_001093772.2 | chr4:g.54707284T>G | c.1112T>G | p.I371S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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