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: 20633291). K550_K558del 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_000222.2
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
XM_017008180 chr4:g.54727434_54727457del24 c.1654_1677del24 p.Q552_I559delQWKVVEEI RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54727434_54727457del24 c.1654_1677del24 p.Q552_I559delQWKVVEEI RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727431_54727454del24 c.1654_1677del24 p.V552_E559delVQWKVVEE RefSeq GRCh38/hg38
NM_000222 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_017008179.1 chr4:g.54727431_54727454del24 c.1654_1677del24 p.V552_E559delVQWKVVEE RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727419_54727442del24 c.1654_1677del24 p.P552_K559delPMYEVQWK RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54727431_54727454del24 c.1654_1677del24 p.V552_E559delVQWKVVEE RefSeq GRCh38/hg38
XM_017008178.1 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
NM_000222.2 chr4:g.54727422_54727445del24 c.1654_1677del24 p.M552_V559delMYEVQWKV RefSeq GRCh38/hg38
XM_005265740.1 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 chr4:g.54727434_54727457del24 c.1654_1677del24 p.Q552_I559delQWKVVEEI RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727419_54727442del24 c.1654_1677del24 p.P552_K559delPMYEVQWK RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54727434_54727457del24 c.1654_1677del24 p.Q552_I559delQWKVVEEI RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT M552_V559del Advanced Solid Tumor sensitive Motesanib Diphosphate Preclinical - Cell culture Actionable In a preclinical study, Motesanib (AMG 706) inhibited KIT phosphorylation and growth of cells expressing KIT M552_V559del in culture (PMID: 20633291). 20633291