Gene Variant Detail

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Gene KIT
Variant Y553_E561delinsLK
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT Y553_E561delinsLK results in the deletion of nine amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 553 to 561, combined with the insertion of a leucine (L) and a lysine (K) at the same site (PMID: 16226710). Y553_E561delinsLK 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 Y553_E561delinsLK

KIT mutant KIT exon11 KIT exon 11 del KIT Y553_E561delinsLK

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Transcript NM_000222.3
gDNA chr4:g.54727425_54727451delinsCTTAAG
cDNA c.1657_1683delinsCTTAAG
Protein p.Y553_E561delinsLK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727425_54727451delinsCTTAAG c.1657_1683delinsCTTAAG p.Y553_E561delinsLK RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727425_54727451delinsCTTAAG c.1657_1683delinsCTTAAG p.Y553_E561delinsLK RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727425_54727451delinsCTTAAG c.1657_1683delinsCTTAAG p.Y553_E561delinsLK RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727425_54727451delinsCTTAAG c.1657_1683delinsCTTAAG p.Y553_E561delinsLK RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727425_54727451delinsCTTAAG c.1657_1683delinsCTTAAG p.Y553_E561delinsLK RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727425_54727451delinsCTTAAG c.1657_1683delinsCTTAAG p.Y553_E561delinsLK RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References