KIT D419del
Gene Variant Detail

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Gene KIT
Variant D419del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions KIT D419del results in the deletion of an amino acid in Ig-like C2-type domain 5 of the Kit protein at amino acid 419 (UniProt.org). The functional effect of D419del is conflicting, as D419del has been reported to result in ligand-independent phosphorylation of Kit (PMID: 16143141, PMID: 15618474), and to result in lack of Kit phosphorylation and lack of cytokine-independent growth in cell culture (PMID: 31182436), and leads to Kit inactivation in response to Ptpre similar to wild-type Kit in cultured cells (PMID: 33732906), and therefore, its effect on Kit protein function is unknown.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon8 KIT D419del

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Transcript NM_000222.3
gDNA chr4:g.54723607_54723609delGAC
cDNA c.1255_1257delGAC
Protein p.D419del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001093772 chr4:g.54723607_54723609delGAC c.1255_1257delGAC p.D419del RefSeq GRCh38/hg38
XM_017008180 chr4:g.54723607_54723609delGAC c.1255_1257delGAC p.D419del RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54723607_54723609delGAC c.1255_1257delGAC p.D419del RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54723607_54723609delGAC c.1255_1257delGAC p.D419del RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54723607_54723609delGAC c.1255_1257delGAC p.D419del RefSeq GRCh38/hg38
XM_017008178 chr4:g.54723607_54723609delGAC c.1255_1257delGAC p.D419del RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54723607_54723609delGAC c.1255_1257delGAC p.D419del RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54723607_54723609delGAC c.1255_1257delGAC p.D419del RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54723607_54723609delGAC c.1255_1257delGAC p.D419del RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54723607_54723609delGAC c.1255_1257delGAC p.D419del RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54723607_54723609delGAC c.1255_1257delGAC p.D419del RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54723607_54723609delGAC c.1255_1257delGAC p.D419del RefSeq GRCh38/hg38
NM_000222 chr4:g.54723607_54723609delGAC c.1255_1257delGAC p.D419del RefSeq GRCh38/hg38

Filtering

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  • 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 Protein Effect Treatment Approaches
KIT D419del unknown KIT Inhibitor