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Gene | FGFR1 |
Variant | C381R |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR1 C381R lies within the transmembrane domain of the Fgfr1 protein (UniProt.org). C381R is associated with increased phospho-Erk1/2 staining in a patient tumor sample (PMID: 30385747), and the corresponding variant in an alternate isoform (C379R) demonstrates constitutive Fgfr1 activity in a luciferase assay and increased Erk1/2 phosphorylation in cell culture (PMID: 26272615), and therefore, is predicted to lead to a gain of Fgfr1 function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 act mut FGFR1 C381R |
Transcript | NM_023110.3 |
gDNA | chr8:g.38419676A>G |
cDNA | c.1141T>C |
Protein | p.C381R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024447097.1 | chr8:g.38419652A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
XM_006716309 | chr8:g.38419652A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
NM_001174064.1 | chr8:g.38419652A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
NM_001174063 | chr8:g.38419676A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
XM_017013222 | chr8:g.38419676A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38419676A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
XM_017013221 | chr8:g.38419676A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
NM_001174064.2 | chr8:g.38419652A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38419676A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38419676A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
XM_017013222.2 | chr8:g.38419676A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38419676A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
XM_006716304 | chr8:g.38419676A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
XM_047421570.1 | chr8:g.38419676A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
NM_023110 | chr8:g.38419676A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38419676A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38419676A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
XM_006716303 | chr8:g.38419676A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38419676A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
NM_001174063.1 | chr8:g.38419676A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
XM_024447097.1 | chr8:g.38419652A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38419676A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
NM_001174064 | chr8:g.38419652A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
NM_001174063.2 | chr8:g.38419676A>G | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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