Gene Variant Detail

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Gene FGFR3
Variant G384D
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 G384D (corresponds to G382D in the canonical isoform) lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). G384D results in in increased phosphorylation of Mapk, Stat1, and Stat3, but is not transforming in cell 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 G384D

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Transcript NM_001163213
gDNA chr4:g.1804399G>A
cDNA c.1151G>A
Protein p.G384D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713869.1 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_006713869 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
NM_001163213 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_006713871 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_006713870 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_006713868.1 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_006713868 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38

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