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Gene | KIT |
Variant | Q556_V559delinsHT |
Impact List | indel |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | KIT Q556_V559delinsHT results in a deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 559, combined with the insertion of a histidine (H) and threonine (T) at the same site (PMID: 16226710). Q556_V559delinsHT has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function. |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT act mut KIT exon 11 del KIT Q556_V559delinsHT KIT mutant KIT exon11 KIT exon 11 del KIT Q556_V559delinsHT |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727434_54727445delinsCATACA |
cDNA | c.1666_1677delinsCATACA |
Protein | p.Q556_V559delinsHT |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017008178.1 | chr4:g.54727434_54727445delinsCATACA | c.1666_1677delinsCATACA | p.Q556_V559delinsHT | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54727434_54727445delinsCATACA | c.1666_1677delinsCATACA | p.Q556_V559delinsHT | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54727434_54727445delinsCATACA | c.1666_1677delinsCATACA | p.Q556_V559delinsHT | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54727434_54727445delinsCATACA | c.1666_1677delinsCATACA | p.Q556_V559delinsHT | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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