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Gene KIT
Variant P577_E583dup
Impact List duplication
Protein Effect unknown
Gene Variant Descriptions KIT P577_E583dup (also referred to as E583_F584insPYDHKWE) indicates the insertion of seven duplicate amino acids, proline (P)-577 through glutamic acid (E)-583, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). P577_E583dup has been identified in sequencing studies (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_E583dup

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Transcript NM_000222.3
gDNA chr4:g.54727497_54727517
cDNA c.1729_1749
Protein p.P577_E583
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54727497_54727517 c.1729_1749 p.P577_E583 RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727497_54727517 c.1729_1749 p.P577_E583 RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727497_54727517 c.1729_1749 p.P577_E583 RefSeq GRCh38/hg38
NM_000222 chr4:g.54727497_54727517 c.1729_1749 p.P577_E583 RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727497_54727517 c.1729_1749 p.P577_E583 RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727497_54727517 c.1729_1749 p.P577_E583 RefSeq GRCh38/hg38

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  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries