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Gene | FGFR1 |
Variant | L614V |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR1 L614V lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). L614V demonstrates increased kinase activity compared to wild-type Fgfr1 in an in vitro assay (PMID: 28166054), and therefore, is predicted to lead to a gain of Fgfr1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 act mut FGFR1 L614V |
Transcript | NM_023110.3 |
gDNA | chr8:g.38415884G>C |
cDNA | c.1840C>G |
Protein | p.L614V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001174064 | chr8:g.38414886G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38415884G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_017013226 | chr8:g.38414593A>C | c.1840T>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_011544443.2 | chr8:g.38415983G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_047421575.1 | chr8:g.38415983G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_006716304 | chr8:g.38415884G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38415884G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_006716303 | chr8:g.38415884G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
NM_001174064.1 | chr8:g.38414886G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
NM_001174064.2 | chr8:g.38414886G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38415884G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_011544446.2 | chr8:g.38415983G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38415884G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_011544443 | chr8:g.38415983G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38415884G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_011544450.3 | chr8:g.38414593A>C | c.1840T>G | p.L614V | RefSeq | GRCh38/hg38 |
NM_023110 | chr8:g.38415884G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_011544449 | chr8:g.38414593A>C | c.1840T>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_017013226.2 | chr8:g.38414593A>C | c.1840T>G | p.L614V | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38415884G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_011544446 | chr8:g.38415983G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38415884G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_011544446.3 | chr8:g.38415983G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_017013226.1 | chr8:g.38414593A>C | c.1840T>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_011544449.2 | chr8:g.38414593A>C | c.1840T>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_011544450.2 | chr8:g.38414593A>C | c.1840T>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_017013221 | chr8:g.38415884G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_011544449.1 | chr8:g.38414593A>C | c.1840T>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_011544450 | chr8:g.38414593A>C | c.1840T>G | p.L614V | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38415884G>C | c.1840C>G | p.L614V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR1 L614V | gain of function - predicted | FGFR Inhibitor (Pan) FGFR1 Inhibitor |