Gene Variant Detail

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Gene KIT
Variant V555_Q556del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT V555_Q556del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 555 to 556 (PMID: 16226710). V555_Q556del 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 V555_Q556del

KIT mutant KIT exon11 KIT exon 11 del KIT V555_Q556del

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Transcript NM_000222.3
gDNA chr4:g.54727431_54727436delGTACAG
cDNA c.1663_1668delGTACAG
Protein p.V555_Q556delVQ
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008180.1 chr4:g.54727444_54727449delTTGTTG c.1664_1669delTTGTTG p.V555_V556delVV RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727444_54727449delTTGTTG c.1664_1669delTTGTTG p.V555_V556delVV RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727444_54727449delTTGTTG c.1664_1669delTTGTTG p.V555_V556delVV RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727428_54727433delGAAGTA c.1663_1668delGAAGTA p.E555_V556delEV RefSeq GRCh38/hg38
XM_017008180 chr4:g.54727444_54727449delTTGTTG c.1664_1669delTTGTTG p.V555_V556delVV RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54727440_54727445delAAGGTT c.1663_1668delAAGGTT p.K555_V556delKV RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727431_54727436delGTACAG c.1663_1668delGTACAG p.V555_Q556delVQ RefSeq GRCh38/hg38
XM_017008179 chr4:g.54727440_54727445delAAGGTT c.1663_1668delAAGGTT p.K555_V556delKV RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727428_54727433delGAAGTA c.1663_1668delGAAGTA p.E555_V556delEV RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54727444_54727449delTTGTTG c.1664_1669delTTGTTG p.V555_V556delVV RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727440_54727445delAAGGTT c.1663_1668delAAGGTT p.K555_V556delKV RefSeq GRCh38/hg38
NM_000222 chr4:g.54727431_54727436delGTACAG c.1663_1668delGTACAG p.V555_Q556delVQ RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727440_54727445delAAGGTT c.1663_1668delAAGGTT p.K555_V556delKV RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727431_54727436delGTACAG c.1663_1668delGTACAG p.V555_Q556delVQ RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727428_54727433delGAAGTA c.1663_1668delGAAGTA p.E555_V556delEV RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727431_54727436delGTACAG c.1663_1668delGTACAG p.V555_Q556delVQ RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727431_54727436delGTACAG c.1663_1668delGTACAG p.V555_Q556delVQ RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727431_54727436delGTACAG c.1663_1668delGTACAG p.V555_Q556delVQ RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727444_54727449delTTGTTG c.1664_1669delTTGTTG p.V555_V556delVV RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727428_54727433delGAAGTA c.1663_1668delGAAGTA p.E555_V556delEV RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727428_54727433delGAAGTA c.1663_1668delGAAGTA p.E555_V556delEV RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54727440_54727445delAAGGTT c.1663_1668delAAGGTT p.K555_V556delKV RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727440_54727445delAAGGTT c.1663_1668delAAGGTT p.K555_V556delKV RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727428_54727433delGAAGTA c.1663_1668delGAAGTA p.E555_V556delEV RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries