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Gene | KIT |
Variant | K558_V559insNP |
Impact List | insertion |
Protein Effect | unknown |
Gene Variant Descriptions | KIT K558_V559insNP results in an insertion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein between amino acids 558 and 559 (PMID: 16226710). K558_V559insNP has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT exon11 KIT K558_V559insNP |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727442_54727443insAACCCT |
cDNA | c.1674_1675insAACCCT |
Protein | p.K558_V559insNP |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001385285.1 | chr4:g.54727442_54727443insAACCCT | c.1674_1675insAACCCT | p.K558_V559insNP | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54727442_54727443insAACCCT | c.1674_1675insAACCCT | p.K558_V559insNP | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54727442_54727443insAACCCT | c.1674_1675insAACCCT | p.K558_V559insNP | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54727442_54727443insAACCCT | c.1674_1675insAACCCT | p.K558_V559insNP | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54727442_54727443insAACCCT | c.1674_1675insAACCCT | p.K558_V559insNP | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54727442_54727443insAACCCT | c.1674_1675insAACCCT | p.K558_V559insNP | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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