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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 but results in 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
NM_000142 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_047449822.1 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_006713870.1 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
NM_001354809.2 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_011513422 chr4:g.1804399G>A c.1145G>A 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_006713868.2 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_006713871.1 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
NM_000142.4 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_011513422.1 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
XM_011513420.1 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_011513420 chr4:g.1804399G>A c.1145G>A p.G382D RefSeq GRCh38/hg38
XM_006713870.2 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
NM_001163213.1 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_047449823.1 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_006713870 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_006713869.2 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
NM_001163213 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
XM_006713871.2 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38
NM_001163213.2 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_006713869 chr4:g.1804393_1804394delGGinsAC c.1145_1146delGGinsAC p.G382D RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References