KIT M552_V559del
Gene Variant Detail

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Gene KIT
Variant M552_V559del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT M552_V559del results in the deletion of eight amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 559 (PMID: 16226710). M552_V559del results in constitutive Kit phosphorylation in cell culture (PMID: 20633291), 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 M552_V559del

KIT mutant KIT exon11 KIT exon 11 del KIT M552_V559del

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Transcript NM_000222.3
gDNA chr4:g.54727422_54727445del24
cDNA c.1654_1677del24
Protein p.M552_V559delMYEVQWKV
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54727422_54727445del24 c.1654_1677del24 p.M552_V559delMYEVQWKV RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727419_54727442del24 c.1654_1677del24 p.P552_K559delPMYEVQWK RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727431_54727454del24 c.1654_1677del24 p.V552_E559delVQWKVVEE RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727419_54727442del24 c.1654_1677del24 p.P552_K559delPMYEVQWK RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727419_54727442del24 c.1654_1677del24 p.P552_K559delPMYEVQWK RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54727431_54727454del24 c.1654_1677del24 p.V552_E559delVQWKVVEE RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727419_54727442del24 c.1654_1677del24 p.P552_K559delPMYEVQWK RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727434_54727457del24 c.1654_1677del24 p.Q552_I559delQWKVVEEI RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727431_54727454del24 c.1654_1677del24 p.V552_E559delVQWKVVEE RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727422_54727445del24 c.1654_1677del24 p.M552_V559delMYEVQWKV RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727434_54727457del24 c.1654_1677del24 p.Q552_I559delQWKVVEEI RefSeq GRCh38/hg38
XM_017008180 chr4:g.54727434_54727457del24 c.1654_1677del24 p.Q552_I559delQWKVVEEI RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727419_54727442del24 c.1654_1677del24 p.P552_K559delPMYEVQWK RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54727434_54727457del24 c.1654_1677del24 p.Q552_I559delQWKVVEEI RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727434_54727457del24 c.1654_1677del24 p.Q552_I559delQWKVVEEI RefSeq GRCh38/hg38
NM_000222 chr4:g.54727422_54727445del24 c.1654_1677del24 p.M552_V559delMYEVQWKV RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727422_54727445del24 c.1654_1677del24 p.M552_V559delMYEVQWKV RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727422_54727445del24 c.1654_1677del24 p.M552_V559delMYEVQWKV RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727422_54727445del24 c.1654_1677del24 p.M552_V559delMYEVQWKV RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727419_54727442del24 c.1654_1677del24 p.P552_K559delPMYEVQWK RefSeq GRCh38/hg38
XM_017008179 chr4:g.54727431_54727454del24 c.1654_1677del24 p.V552_E559delVQWKVVEE RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54727434_54727457del24 c.1654_1677del24 p.Q552_I559delQWKVVEEI RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54727431_54727454del24 c.1654_1677del24 p.V552_E559delVQWKVVEE RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727431_54727454del24 c.1654_1677del24 p.V552_E559delVQWKVVEE 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
KIT M552_V559del gain of function - predicted KIT Inhibitor
KIT P551I KIT M552_V559del
KIT P551I KIT M552_V559del KIT Y823D