FGFR1 S393L
Gene Variant Detail

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Gene FGFR1
Variant S393L
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions FGFR1 S393L lies within the transmembrane domain of the Fgfr1 protein (UniProt.org). S393L results in increased serum dependency for growth in culture (PMID: 40526877), 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 S393L

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Transcript NM_023110.3
gDNA chr8:g.38419639G>A
cDNA c.1178C>T
Protein p.S393L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001174063.2 chr8:g.38419639G>A c.1178C>T p.S393L RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38419639G>A c.1178C>T p.S393L RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References