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Gene KIT
Variant V555_D572del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT V555_D572del results in the deletion of 18 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 555 to 572 (PMID: 16226710). V555_D572del 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_D572del

KIT mutant KIT exon11 KIT exon 11 del KIT V555_D572del

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Transcript NM_000222.3
gDNA chr4:g.54727431_54727484del54
cDNA c.1663_1716del54
Protein p.V555_D572del18
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385290.1 chr4:g.54727430_54727483del54 c.1665_1718del54 p.E555_I572del18 RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727440_54727493del54 c.1663_1716del54 p.K555_Q572del18 RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727443_54727496del54 c.1663_1716del54 p.V555_L572del18 RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727430_54727483del54 c.1665_1718del54 p.E555_I572del18 RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727431_54727484del54 c.1663_1716del54 p.V555_D572del18 RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727431_54727484del54 c.1663_1716del54 p.V555_D572del RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727440_54727493del54 c.1663_1716del54 p.K555_Q572del18 RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727443_54727496del54 c.1663_1716del54 p.V555_L572del18 RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727431_54727484del54 c.1663_1716del54 p.V555_D572del RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727431_54727484del54 c.1663_1716del54 p.V555_D572del18 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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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 Protein Effect Treatment Approaches
KIT V555_D572del gain of function - predicted KIT Inhibitor
KIT V555_D572del KIT N822K
KIT V555_D572del KIT N822Y