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 results in constitutive activation of Fgfr3 and downstream signaling, but is not transforming in cell culture (PMID: 11429702), and therefore, is predicted to result in a gain of Fgfr3 protein function.
Associated Drug Resistance

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Transcript NM_000142
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 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
NM_001163213 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
XM_006713872 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_006713870 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
XM_006713869 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_006713868 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Protein Effect Treatment Approaches
FGFR3 G382D gain of function - predicted FGFR Inhibitor (Pan) FGFR3 Inhibitor
FGFR3 G382D FGFR3 over exp
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References