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Gene FGFR3
Variant D788N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR3 D788N (corresponds to D785N in the canonical isoform) lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). D788N results in increased proliferation in some cell culture conditions, but not others (PMID: 27053219) and therefore, its effect on Fgfr3 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 D788N

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Transcript NM_001163213.2
gDNA chr4:g.1807197G>A
cDNA c.2362G>A
Protein p.D788N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713871.2 chr4:g.1807194G>A c.2362G>A p.D788N RefSeq GRCh38/hg38
NM_001163213 chr4:g.1807197G>A c.2362G>A p.D788N RefSeq GRCh38/hg38
XM_006713871 chr4:g.1807194G>A c.2362G>A p.D788N RefSeq GRCh38/hg38
XM_011513422 chr4:g.1807197G>A c.2362G>A p.D788N RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1807194G>A c.2362G>A p.D788N RefSeq GRCh38/hg38
XM_047449821.1 chr4:g.1807194G>A c.2362G>A p.D788N RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1807197G>A c.2362G>A p.D788N RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1807197G>A c.2362G>A p.D788N RefSeq GRCh38/hg38
XM_011513420 chr4:g.1807194G>A c.2362G>A p.D788N RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1807194G>A c.2362G>A p.D788N RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1807194G>A c.2362G>A p.D788N RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1807197G>A c.2362G>A p.D788N RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1807197G>A c.2362G>A p.D788N RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries