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Gene | FGFR3 |
Variant | M528I |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR3 M528I lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). M528I results in both increased phosphorylation of Erk, Stat1, and Stat3, and autophosphorylation of Fgfr3 in culture (PMID: 25777271). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 act mut FGFR3 M528I |
Transcript | NM_000142.5 |
gDNA | chr4:g.1805608G>C |
cDNA | c.1584G>C |
Protein | p.M528I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047449824.1 | chr4:g.1805608G>C | c.1584G>C | p.M528I | RefSeq | GRCh38/hg38 |
XM_011513420 | chr4:g.1805602G>C | c.1584G>C | p.M528I | RefSeq | GRCh38/hg38 |
XM_011513420.2 | chr4:g.1805602G>C | c.1584G>C | p.M528I | RefSeq | GRCh38/hg38 |
XM_006713871 | chr4:g.1805602G>C | c.1584G>C | p.M528I | RefSeq | GRCh38/hg38 |
NM_001163213.1 | chr4:g.1805602G>C | c.1584G>C | p.M528I | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1805608G>C | c.1584G>C | p.M528I | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1805608G>C | c.1584G>C | p.M528I | RefSeq | GRCh38/hg38 |
XM_006713871.1 | chr4:g.1805602G>C | c.1584G>C | p.M528I | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1805608G>C | c.1584G>C | p.M528I | RefSeq | GRCh38/hg38 |
XM_006713871.2 | chr4:g.1805602G>C | c.1584G>C | p.M528I | RefSeq | GRCh38/hg38 |
NM_001163213.2 | chr4:g.1805602G>C | c.1584G>C | p.M528I | RefSeq | GRCh38/hg38 |
NM_001163213 | chr4:g.1805602G>C | c.1584G>C | p.M528I | RefSeq | GRCh38/hg38 |
XM_011513420.1 | chr4:g.1805602G>C | c.1584G>C | p.M528I | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1805608G>C | c.1584G>C | p.M528I | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1805608G>C | c.1584G>C | p.M528I | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1805608G>C | c.1584G>C | p.M528I | RefSeq | GRCh38/hg38 |
XM_006713873 | chr4:g.1805608G>C | c.1584G>C | p.M528I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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