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Gene KIT
Variant N567K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT N567K lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). N567K has been identified in sequencing studies (PMID: 15217946), 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 N567K

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Transcript NM_000222.3
gDNA chr4:g.54727469T>G
cDNA c.1701T>G
Protein p.N567K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741 chr4:g.54727466C>G c.1701C>G p.N567K RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727466C>G c.1701C>G p.N567K RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727469T>G c.1701T>G p.N567K RefSeq GRCh38/hg38
NM_000222 chr4:g.54727469T>G c.1701T>G p.N567K RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727469T>G c.1701T>G p.N567K RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727469T>G c.1701T>G p.N567K RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727466C>G c.1701C>G p.N567K RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727469T>G c.1701T>G p.N567K RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727466C>G c.1701C>G p.N567K RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727466C>G c.1701C>G p.N567K RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727469T>G c.1701T>G p.N567K RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727466C>G c.1701C>G p.N567K 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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Sorting

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