Gene Variant Detail

Gene KIT
Variant V555_L576del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT V555_L576del results in the deletion of twenty-two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 555 to 576 (PMID: 16226710). V555_I576del has not been characterized, however similar Kit exon 11 deletions are activating, thus V555_I576del is predicted to lead to a gain of function (PMID: 9438854, PMID: 15365079).
Associated Drug Resistance

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Transcript NM_000222
gDNA chr4:g.54727431_54727496del66
cDNA c.1663_1728del66
Protein p.V555_L576del22
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008179 chr4:g.54727440_54727505del66 c.1663_1728del66 p.K555_D576del22 RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727443_54727508del66 c.1663_1728del66 p.V555_H576del22 RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727428_54727493del66 c.1663_1728del66 p.E555_Q576del22 RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727440_54727505del66 c.1663_1728del66 p.K555_D576del22 RefSeq GRCh38/hg38
NM_000222 chr4:g.54727431_54727496del66 c.1663_1728del66 p.V555_L576del22 RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727428_54727493del66 c.1663_1728del66 p.E555_Q576del22 RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727431_54727496del66 c.1663_1728del66 p.V555_L576del22 RefSeq GRCh38/hg38
XM_017008180 chr4:g.54727443_54727508del66 c.1663_1728del66 p.V555_H576del22 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

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Molecular Profile Protein Effect Treatment Approaches
KIT V555_L576del gain of function - predicted
KIT V555_L576del KIT D820G KIT D820Y
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT V555_L576del KIT D820G KIT D820Y gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT D820G and KIT D820Y were identified as secondary mutations in a patient with gastrointestinal stromal tumor harboring a primary KIT V555_L576del mutation, who developed resistance to Gleevec (imatinib) (PMID: 18488160). 18488160