KIT D816X
Gene Variant Detail

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Gene KIT
Variant D816X
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT D816X indicates any Kit missense mutation that results in the replacement of the aspartic acid (D) at amino acid 816 by a different amino acid.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon17 KIT D816X

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Transcript NM_000222.3
gDNA chr4:g.54733154_54733156
cDNA c.2446_2448
Protein p.D816
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741 chr4:g.54733154_54733156 c.2446_2448 p.D816 RefSeq GRCh38/hg38
XM_017008179 chr4:g.54733166_54733168 c.2446_2448 p.D816 RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54733166_54733168 c.2446_2448 p.D816 RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733154_54733156 c.2446_2448 p.D816 RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54733166_54733168 c.2446_2448 p.D816 RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733154_54733156 c.2446_2448 p.D816 RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733154_54733156 c.2446_2448 p.D816 RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54733166_54733168 c.2446_2448 p.D816 RefSeq GRCh38/hg38
NM_001093772 chr4:g.54733166_54733168 c.2446_2448 p.D816 RefSeq GRCh38/hg38
NM_000222 chr4:g.54733154_54733156 c.2446_2448 p.D816 RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54733166_54733168 c.2446_2448 p.D816 RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733154_54733156 c.2446_2448 p.D816 RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT D816X systemic mastocytosis not applicable N/A Guideline Diagnostic Activating mutations at codon 816 of KIT aid in the diagnosis of systemic mastocytosis (NCCN.org). detail...