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Gene KIT
Variant P577_H580dup
Impact List duplication
Protein Effect unknown
Gene Variant Descriptions KIT P577_H580dup (also referred to as H580_K581insPYDH) indicates the insertion of four duplicate amino acids, proline (P)-577 through histidine (H)-580, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). P577_H580dup has been identified in sequencing studies (PMID: 18006774, PMID: 23291969, PMID: 19768731), 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 P577_H580dup

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Transcript NM_000222.3
gDNA chr4:g.54727497_54727508
cDNA c.1729_1740
Protein p.P577_H580
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54727497_54727508 c.1729_1740 p.P577_H580 RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727497_54727508 c.1729_1740 p.P577_H580 RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727497_54727508 c.1729_1740 p.P577_H580 RefSeq GRCh38/hg38
NM_000222 chr4:g.54727497_54727508 c.1729_1740 p.P577_H580 RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727497_54727508 c.1729_1740 p.P577_H580 RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727497_54727508 c.1729_1740 p.P577_H580 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
KIT P577_H580dup unknown