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Gene | FGFR1 |
Variant | V751A |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FGFR1 V751A lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). V751A results in decreased proliferation relative to wild-type Fgfr1 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 inact mut FGFR1 V751A |
Transcript | NM_023110.3 |
gDNA | chr8:g.38413958A>G |
cDNA | c.2252T>C |
Protein | p.V751A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006716304.1 | chr8:g.38413958A>G | c.2252T>C | p.V751A | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38413958A>G | c.2252T>C | p.V751A | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38413958A>G | c.2252T>C | p.V751A | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38413958A>G | c.2252T>C | p.V751A | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38413958A>G | c.2252T>C | p.V751A | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38413958A>G | c.2252T>C | p.V751A | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38413958A>G | c.2252T>C | p.V751A | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38413958A>G | c.2252T>C | p.V751A | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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