FGFR3 G382D
Gene Variant Detail

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Gene FGFR3
Variant G382D
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 G382D lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). G382D is not transforming (PMID: 11429702), results in decreased chondrocyte autophagy and proliferation and decreased skeletal development in mice but increased Erk phosphorylation, Lc3a and p62 expression, mitonchondrial fission, and cuproptosis in culture (PMID: 39991457), and constitutive activation of Fgfr3 and downstream signaling in culture (PMID: 11429702), 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 G382D

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Transcript NM_000142.5
gDNA chr4:g.1804399G>A
cDNA c.1145G>A
Protein p.G382D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713873.1 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_011513422 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_006713869 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
XM_006713868 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
XM_011513420 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
XM_006713870 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
XM_006713869.1 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
XM_006713870.2 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
NM_000142 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
XM_006713869.2 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_047449820.1 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
XM_047449821.1 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
NM_001163213 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_006713873 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_006713872 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_006713868.1 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_006713871.2 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
XM_006713871 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_006713868.2 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1804399G>A c.1145G>A p.G382D 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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