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Gene | FGFR1 |
Variant | Q309* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FGFR1 Q309* results in a premature truncation of the Fgfr1 protein at amino acid 309 of 822 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), Q309* is predicted to lead to a loss of Fgfr1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 inact mut FGFR1 Q309* |
Transcript | NM_023110.3 |
gDNA | chr8:g.38424520G>A |
cDNA | c.925C>T |
Protein | p.Q309* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017013221.1 | chr8:g.38424520G>A | c.925C>T | p.Q309* | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38424520G>A | c.925C>T | p.Q309* | RefSeq | GRCh38/hg38 |
NM_001174063.1 | chr8:g.38424520G>A | c.925C>T | p.Q309* | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38424520G>A | c.925C>T | p.Q309* | RefSeq | GRCh38/hg38 |
XM_047421570.1 | chr8:g.38424520G>A | c.925C>T | p.Q309* | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38424520G>A | c.925C>T | p.Q309* | RefSeq | GRCh38/hg38 |
NM_001174063 | chr8:g.38424520G>A | c.925C>T | p.Q309* | RefSeq | GRCh38/hg38 |
XM_017013222 | chr8:g.38424520G>A | c.925C>T | p.Q309* | RefSeq | GRCh38/hg38 |
XM_006716303 | chr8:g.38424520G>A | c.925C>T | p.Q309* | RefSeq | GRCh38/hg38 |
XM_017013222.2 | chr8:g.38424520G>A | c.925C>T | p.Q309* | RefSeq | GRCh38/hg38 |
NM_001174063.2 | chr8:g.38424520G>A | c.925C>T | p.Q309* | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38424520G>A | c.925C>T | p.Q309* | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38424520G>A | c.925C>T | p.Q309* | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38424520G>A | c.925C>T | p.Q309* | RefSeq | GRCh38/hg38 |
NM_023110 | chr8:g.38424520G>A | c.925C>T | p.Q309* | RefSeq | GRCh38/hg38 |
XM_006716304 | chr8:g.38424520G>A | c.925C>T | p.Q309* | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38424520G>A | c.925C>T | p.Q309* | RefSeq | GRCh38/hg38 |
XM_017013221 | chr8:g.38424520G>A | c.925C>T | p.Q309* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR1 Q309* | loss of function - predicted |