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Gene | FGFR1 |
Variant | N193fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FGFR1 N193fs results in a change in the amino acid sequence of the Fgfr1 protein beginning at aa 193 of 822, likely resulting in premature truncation of the functional protein (UniProt.org). N193fs 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 N193fs |
Transcript | NM_023110.3 |
gDNA | chr8:g.(38427965_38427966) |
cDNA | c.(577_576) |
Protein | p.N193fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006716303.4 | chr8:g.(38427965_38427966) | c.(577_576) | p.N193fs | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.(38427965_38427966) | c.(577_576) | p.N193fs | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.(38427965_38427966) | c.(577_576) | p.N193fs | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.(38427965_38427966) | c.(577_576) | p.N193fs | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.(38427965_38427966) | c.(577_576) | p.N193fs | RefSeq | GRCh38/hg38 |
XM_047421570.1 | chr8:g.(38427965_38427966) | c.(577_576) | p.N193fs | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.(38427965_38427966) | c.(577_576) | p.N193fs | RefSeq | GRCh38/hg38 |
NM_001174063.2 | chr8:g.(38427965_38427966) | c.(577_576) | p.N193fs | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.(38427965_38427966) | c.(577_576) | p.N193fs | RefSeq | GRCh38/hg38 |
NM_001174063.1 | chr8:g.(38427965_38427966) | c.(577_576) | p.N193fs | RefSeq | GRCh38/hg38 |
XM_017013222.2 | chr8:g.(38427965_38427966) | c.(577_576) | p.N193fs | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.(38427965_38427966) | c.(577_576) | p.N193fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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