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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 |
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_011544447.3 | chr8:g.38421862T>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_001354367.1 | 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_006716313 | chr8:g.38418270T>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_006716309 | 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 |
NM_023106 | chr8:g.38418270T>C | c.1115A>G | p.Y372C | RefSeq | GRCh38/hg38 |
XM_006716306 | 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_011544446.3 | chr8:g.38421862T>C | c.1115A>G | p.Y372C | RefSeq | GRCh38/hg38 |
NM_001174065.2 | chr8:g.38419696T>C | c.1115A>G | p.Y372C | RefSeq | GRCh38/hg38 |
XM_006716307 | chr8:g.38419696T>C | c.1115A>G | p.Y372C | RefSeq | GRCh38/hg38 |
XM_011544447 | chr8:g.38421862T>C | c.1115A>G | p.Y372C | RefSeq | GRCh38/hg38 |
NM_015850.4 | chr8:g.38419696T>C | c.1115A>G | p.Y372C | RefSeq | GRCh38/hg38 |
XM_017013224 | chr8:g.38419696T>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_024447097.1 | chr8:g.38419678T>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_011544446.2 | chr8:g.38421862T>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_001410922.1 | chr8:g.38419696T>C | c.1115A>G | p.Y372C | RefSeq | GRCh38/hg38 |
XM_006716307.2 | chr8:g.38419696T>C | c.1115A>G | p.Y372C | RefSeq | GRCh38/hg38 |
NM_001174064 | 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_023106.2 | chr8:g.38418270T>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_006716314.3 | chr8:g.38418270T>C | c.1115A>G | p.Y372C | RefSeq | GRCh38/hg38 |
XM_047421573.1 | 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_047421569.1 | chr8:g.38419696T>C | c.1115A>G | p.Y372C | RefSeq | GRCh38/hg38 |
NM_015850 | chr8:g.38419696T>C | c.1115A>G | p.Y372C | RefSeq | GRCh38/hg38 |
XM_011544445.2 | 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 | chr8:g.38418270T>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_047421575.1 | 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_011544443.2 | chr8:g.38421862T>C | c.1115A>G | p.Y372C | RefSeq | GRCh38/hg38 |
XM_017013225 | chr8:g.38419696T>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_017013225.3 | 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 |
NM_001174064.2 | chr8:g.38419678T>C | c.1115A>G | p.Y372C | RefSeq | GRCh38/hg38 |
XM_017013225.2 | 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 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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