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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 is not transforming but results in increased phosphorylation of Mapk, Stat1, and Stat3 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 G384D |
Transcript | NM_001163213.2 |
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 |
---|---|---|---|---|---|
NM_001163213.2 | chr4:g.1804399G>A | c.1151G>A | p.G384D | RefSeq | GRCh38/hg38 |
XM_006713868.2 | 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 |
NM_001163213 | 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 |
XM_006713869.1 | 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_006713871.2 | chr4:g.1804399G>A | c.1151G>A | p.G384D | RefSeq | GRCh38/hg38 |
XM_047449821.1 | 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_006713869.2 | chr4:g.1804399G>A | c.1151G>A | p.G384D | RefSeq | GRCh38/hg38 |
XM_006713870.2 | 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 |
XM_047449820.1 | 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_006713871.1 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR3 G384D FGFR3 over exp | multiple myeloma | decreased response | PD173074 | Preclinical | Actionable | In a preclinical study, multiple myeloma cells over expressing FGFR3 G384D had reduced sensitivity to PD173074 in culture, compared to cells with ligand-independent activation of FGFR3 (PMID: 22869148). | 22869148 |
FGFR3 G384D FGFR3 over exp | multiple myeloma | decreased response | AZD4547 | Preclinical | Actionable | In a preclinical study, multiple myeloma cells over expressing FGFR3 G384D had reduced sensitivity to AZD4547 in culture, compared to cells with ligand-independent activation of FGFR3 (PMID: 22869148). | 22869148 |
FGFR3 G384D FGFR3 over exp | multiple myeloma | decreased response | AZ8010 | Preclinical | Actionable | In a preclinical study, multiple myeloma cells over expressing FGFR3 G384D had reduced sensitivity to AZ8010 in culture, compared to cells with ligand-independent activation of FGFR3 (PMID: 22869148). | 22869148 |