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Gene KIT
Variant L576_H580dup
Impact List duplication
Protein Effect unknown
Gene Variant Descriptions KIT L576_H580dup indicates the insertion of five duplicate amino acids, leucine (L)-576 through histidine (H)-580, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). L576_H580dup has been identified in sequencing studies (PMID: 30393068), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon11 KIT L576_H580dup

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Transcript NM_000222.3
gDNA chr4:g.54727494_54727508
cDNA c.1726_1740
Protein p.L576_H580
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727508_54727509insCTTCCTTATGACCAT c.1740_1741insCTTCCTTATGACCAT p.L576_H580dup RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727494_54727508 c.1726_1740 p.L576_H580 RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727494_54727508 c.1726_1740 p.L576_H580 RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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