Gene Variant Detail

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Gene FGFR1
Variant Y372C
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR1 Y372C (corresponds to Y374C in the canonical isoform) lies within the extracellular domain of the Fgfr1 protein (UniProt.org). Y372C results in increased basal and ligand induced Fgfr1 activity in a luciferace assay (PMID: 15625620), 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 Y372C

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Transcript NM_015850.4
gDNA chr8:g.38419696T>C
cDNA c.1115A>G
Protein p.Y372C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011544443.2 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001174065.1 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_006716314.2 chr8:g.38418270T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_047421575.1 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_017013224.2 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_006716307.1 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_011544445.3 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_006716307.2 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_011544447.2 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_011544443 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_006716314 chr8:g.38418270T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_015850 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001354369.1 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001174065.2 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_023106 chr8:g.38418270T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_006716313 chr8:g.38418270T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_017013225.3 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_011544446.3 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_011544446.2 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_023106.3 chr8:g.38418270T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_006716314.3 chr8:g.38418270T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_011544445.2 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_011544447.3 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_006716309 chr8:g.38419678T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_017013225 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001410922.1 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001354370.1 chr8:g.38418270T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_011544446 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_024447097.1 chr8:g.38419678T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_047421573.1 chr8:g.38418270T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_023106.2 chr8:g.38418270T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001174064 chr8:g.38419678T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_011544447 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_024447097.1 chr8:g.38419678T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001354369.2 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_011544445 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_006716307 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001354370.2 chr8:g.38418270T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001354367.1 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_006716306 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001354367.2 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001174064.2 chr8:g.38419678T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001174065 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001174064.1 chr8:g.38419678T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_017013224 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_015850.4 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_015850.3 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_017013223 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_017013225.2 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_047421569.1 chr8:g.38419696T>C c.1115A>G p.Y372C 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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