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Gene KIT
Variant T574_H580dup
Impact List duplication
Protein Effect unknown
Gene Variant Descriptions KIT T574_H580dup indicates the insertion of seven duplicate amino acids, threonine (T)-574 through histidine (H)-580, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). T574_H580dup has been identified in sequencing studies (PMID: 30101387), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2023).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon11 KIT T574_H580dup

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Transcript NM_000222
gDNA chr4:g.54727509_54727510insCACAACTTCCTTATGACCATA
cDNA c.1741_1742insCACAACTTCCTTATGACCATA
Protein p.T574_H580dup
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385285.1 chr4:g.54727488_54727508 c.1720_1740 p.T574_H580 RefSeq GRCh38/hg38
NM_000222 chr4:g.54727509_54727510insCACAACTTCCTTATGACCATA c.1741_1742insCACAACTTCCTTATGACCATA p.T574_H580dup RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727488_54727508 c.1720_1740 p.T574_H580 RefSeq GRCh38/hg38

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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")

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