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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

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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_017013222.2 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_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_006716303.3 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_006716304.1 chr8:g.(38427965_38427966) c.(577_576) p.N193fs RefSeq GRCh38/hg38
XM_006716303.4 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
NM_023110.3 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_006716304.2 chr8:g.(38427965_38427966) c.(577_576) p.N193fs RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries