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Gene | FGFR1 |
Variant | E592G |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR1 E592G lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). E592G results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 E592G |
Transcript | NM_023110.3 |
gDNA | chr8:g.38415949T>C |
cDNA | c.1775A>G |
Protein | p.E592G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006716304.1 | chr8:g.38415949T>C | c.1775A>G | p.E592G | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38415949T>C | c.1775A>G | p.E592G | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38415949T>C | c.1775A>G | p.E592G | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38415949T>C | c.1775A>G | p.E592G | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38415949T>C | c.1775A>G | p.E592G | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38415949T>C | c.1775A>G | p.E592G | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38415949T>C | c.1775A>G | p.E592G | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38415949T>C | c.1775A>G | p.E592G | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR1 E592G | no effect - predicted |