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Gene KIT
Variant Y553_Q556del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions KIT Y553_Q556del results in the deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 553 to 556 (PMID: 16226710). Y553_Q556del confers a gain of function on Kit, as indicated by autophosphorylation of Kit, activation of Stat3 and Akt (PMID: 15690055), and increased Hmgb1 expression in patient samples (PMID: 12727838).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT Y553_Q556del

KIT mutant KIT exon11 KIT exon 11 del KIT Y553_Q556del

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Transcript NM_000222.3
gDNA chr4:g.54727426_54727437del12
cDNA c.1658_1669del12
Protein p.Y553_Q556delYEVQ
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727426_54727437del12 c.1658_1669del12 p.Y553_Q556del RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727422_54727433del12 c.1657_1668del12 p.M553_V556delMYEV RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727434_54727445del12 c.1657_1668del12 p.Q553_V556delQWKV RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727426_54727437del12 c.1658_1669del12 p.Y553_Q556delYEVQ RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727422_54727433del12 c.1657_1668del12 p.M553_V556delMYEV RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727437_54727448del12 c.1657_1668del12 p.W553_V556delWKVV RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727426_54727437del12 c.1658_1669del12 p.Y553_Q556delYEVQ RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727434_54727445del12 c.1657_1668del12 p.Q553_V556delQWKV RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727426_54727437del12 c.1658_1669del12 p.Y553_Q556del RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727437_54727448del12 c.1657_1668del12 p.W553_V556delWKVV RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727426_54727437del12 c.1658_1669del12 p.Y553_Q556del RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727426_54727437del12 c.1658_1669del12 p.Y553_Q556del RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References