Gene Variant Detail

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Gene KIT
Variant K581_W582insDPTQLPYDH
Impact List insertion
Protein Effect unknown
Gene Variant Descriptions KIT K581_W582insDPTQLPYDH results in the insertion of nine amino acids in the juxtamembrane domain (exon 11) of the Kit protein between amino acids 581 and 582 (PMID: 16226710). K581_W582insDPTQLPYDH has not been 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 K581_W582insDPTQLPYDH

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Transcript NM_000222.3
gDNA chr4:g.54727511_54727512insGACCCTACACAACTTCCTTATGACCAT
cDNA c.1743_1744insGACCCTACACAACTTCCTTATGACCAT
Protein p.K581_W582insDPTQLPYDH
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178 chr4:g.54727511_54727512insGACCCTACACAACTTCCTTATGACCAT c.1743_1744insGACCCTACACAACTTCCTTATGACCAT p.K581_W582insDPTQLPYDH RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727511_54727512insGACCCTACACAACTTCCTTATGACCAT c.1743_1744insGACCCTACACAACTTCCTTATGACCAT p.K581_W582insDPTQLPYDH RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727511_54727512insGACCCTACACAACTTCCTTATGACCAT c.1743_1744insGACCCTACACAACTTCCTTATGACCAT p.K581_W582insDPTQLPYDH RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727511_54727512insGACCCTACACAACTTCCTTATGACCAT c.1743_1744insGACCCTACACAACTTCCTTATGACCAT p.K581_W582insDPTQLPYDH RefSeq GRCh38/hg38
NM_000222 chr4:g.54727511_54727512insGACCCTACACAACTTCCTTATGACCAT c.1743_1744insGACCCTACACAACTTCCTTATGACCAT p.K581_W582insDPTQLPYDH RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727511_54727512insGACCCTACACAACTTCCTTATGACCAT c.1743_1744insGACCCTACACAACTTCCTTATGACCAT p.K581_W582insDPTQLPYDH 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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