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Gene KIT
Variant E562K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT E562K lies within the cytoplasmic domain of the Kit protein (UniProt.org). E562K has been identified in sequencing studies (PMID: 20861712), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2023).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon11 KIT E562K

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Transcript NM_000222.3
gDNA chr4:g.54727452G>A
cDNA c.1684G>A
Protein p.E562K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741.1 chr4:g.54727449G>A c.1684G>A p.E562K RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727449G>A c.1684G>A p.E562K RefSeq GRCh38/hg38
NM_000222 chr4:g.54727452G>A c.1684G>A p.E562K RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727452G>A c.1684G>A p.E562K RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727449G>A c.1684G>A p.E562K RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727449G>A c.1684G>A p.E562K RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727452G>A c.1684G>A p.E562K RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727449G>A c.1684G>A p.E562K RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727452G>A c.1684G>A p.E562K RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727449G>A c.1684G>A p.E562K RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727452G>A c.1684G>A p.E562K RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727452G>A c.1684G>A p.E562K RefSeq GRCh38/hg38

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