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Gene | FGFR1 |
Variant | N546D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 N546D lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). N546D has been identified in the scientific literature (PMID: 32622884, PMID: 29728520), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 N546D |
Transcript | NM_023110.3 |
gDNA | chr8:g.38417333T>C |
cDNA | c.1636A>G |
Protein | p.N546D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_023105.3 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
XM_006716311.1 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38417333T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38417333T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
XM_006716312.2 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
NM_001174066.2 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
NM_023105.2 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
XM_006716311.1 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38417333T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
XM_006716310.4 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
XM_006716312.2 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38417333T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
XM_006716310.3 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38417333T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38417333T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
NM_001174066.1 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38417333T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38417333T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR1 N546D | unknown |