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Gene | FGFR1 |
Variant | A645V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FGFR1 A645V lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). A645V results in a loss of function of the Fgfr1 protein as demonstrated by decreased Erk activation and c-Fos expression and elevated autophagy in cell culture (PMID: 30787447). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 inact mut FGFR1 A645V |
Transcript | NM_023110.3 |
gDNA | chr8:g.38414822G>A |
cDNA | c.1934C>T |
Protein | p.A645V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017013221.2 | chr8:g.38414822G>A | c.1934C>T | p.A645V | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38414822G>A | c.1934C>T | p.A645V | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38414822G>A | c.1934C>T | p.A645V | RefSeq | GRCh38/hg38 |
XM_006716303 | chr8:g.38414822G>A | c.1934C>T | p.A645V | RefSeq | GRCh38/hg38 |
XM_017013221 | chr8:g.38414822G>A | c.1934C>T | p.A645V | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38414822G>A | c.1934C>T | p.A645V | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38414822G>A | c.1934C>T | p.A645V | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38414822G>A | c.1934C>T | p.A645V | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38414822G>A | c.1934C>T | p.A645V | RefSeq | GRCh38/hg38 |
XM_006716304 | chr8:g.38414822G>A | c.1934C>T | p.A645V | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38414822G>A | c.1934C>T | p.A645V | RefSeq | GRCh38/hg38 |
NM_023110 | chr8:g.38414822G>A | c.1934C>T | p.A645V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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