Gene Variant Detail

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Gene FGFR1
Variant P252S
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR1 P252S lies within the extracellular domain of the Fgfr1 protein (UniProt.org). P252S results in altered ligand specificity and increased ligand affinity (PMID: 18056464), and therefore, is predicted to lead to a gain of Fgfr1 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 act mut FGFR1 P252S

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Transcript NM_023110.3
gDNA chr8:g.38424691G>A
cDNA c.754C>T
Protein p.P252S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006716303.3 chr8:g.38424691G>A c.754C>T p.P252S RefSeq GRCh38/hg38
XM_006716303 chr8:g.38424691G>A c.754C>T p.P252S RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38424691G>A c.754C>T p.P252S RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38424691G>A c.754C>T p.P252S RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38424691G>A c.754C>T p.P252S RefSeq GRCh38/hg38
NM_023110 chr8:g.38424691G>A c.754C>T p.P252S RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38424691G>A c.754C>T p.P252S RefSeq GRCh38/hg38
XM_006716304 chr8:g.38424691G>A c.754C>T p.P252S RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38424691G>A c.754C>T p.P252S RefSeq GRCh38/hg38
XM_017013221 chr8:g.38424691G>A c.754C>T p.P252S RefSeq GRCh38/hg38
NM_001174063 chr8:g.38424691G>A c.754C>T p.P252S RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38424691G>A c.754C>T p.P252S RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38424691G>A c.754C>T p.P252S RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38424691G>A c.754C>T p.P252S RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38424691G>A c.754C>T p.P252S RefSeq GRCh38/hg38
NM_001174063.1 chr8:g.38424691G>A c.754C>T p.P252S RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38424691G>A c.754C>T p.P252S RefSeq GRCh38/hg38
XM_017013222 chr8:g.38424691G>A c.754C>T p.P252S RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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