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Gene FGFR3
Variant D786N
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 D786N lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). D786N results in increased transformation ability in cell culture (PMID: 29533785), and therefore, is predicted to lead to a gain of Fgfr3 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 D786N

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Transcript NM_000142.5
gDNA chr4:g.1807197G>A
cDNA c.2356G>A
Protein p.D786N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713873.1 chr4:g.1807194G>A c.2356G>A p.D786N RefSeq GRCh38/hg38
XM_006713872 chr4:g.1807194G>A c.2356G>A p.D786N RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1807197G>A c.2356G>A p.D786N RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1807194G>A c.2356G>A p.D786N RefSeq GRCh38/hg38
XM_006713873 chr4:g.1807194G>A c.2356G>A p.D786N RefSeq GRCh38/hg38
NM_000142 chr4:g.1807197G>A c.2356G>A p.D786N RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1807194G>A c.2356G>A p.D786N RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1807197G>A c.2356G>A p.D786N RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1807197G>A c.2356G>A p.D786N RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1807194G>A c.2356G>A p.D786N RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1807194G>A c.2356G>A p.D786N RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1807194G>A c.2356G>A p.D786N RefSeq GRCh38/hg38

Filtering

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