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Gene | FGFR1 |
Variant | L484M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 L484M lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). L484M has been identified in sequencing studies (PMID: 30503610), 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 L484M |
Transcript | NM_023110.3 |
gDNA | chr8:g.38417972G>T |
cDNA | c.1450C>A |
Protein | p.L484M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017013221 | chr8:g.38417972G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_017013231.1 | chr8:g.38422759_38422761delTTAinsATG | c.1450_1452delTTAinsATG | p.L484M | RefSeq | GRCh38/hg38 |
NM_023110 | chr8:g.38417972G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_006716312.2 | chr8:g.38416007G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_017013231 | chr8:g.38422759_38422761delTAAinsCAT | c.1450_1452delTTAinsATG | p.L484M | RefSeq | GRCh38/hg38 |
NM_001174064.1 | chr8:g.38417942A>T | c.1450T>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_006716311.1 | chr8:g.38416007G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_006716312 | chr8:g.38416007G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
NM_001174066.2 | chr8:g.38416007G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_011544451 | chr8:g.38415983G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
NM_023105 | chr8:g.38416007G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
NM_023105.3 | chr8:g.38416007G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_006716310 | chr8:g.38416007G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_006716303 | chr8:g.38417972G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_011544451.1 | chr8:g.38415983G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38417972G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38417972G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38417972G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38417972G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
NM_001174064 | chr8:g.38417942A>T | c.1450T>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_006716310.3 | chr8:g.38416007G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38417972G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38417972G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_011544451.1 | chr8:g.38415983G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38417972G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_006716310.4 | chr8:g.38416007G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
NM_001174064.2 | chr8:g.38417942A>T | c.1450T>A | p.L484M | RefSeq | GRCh38/hg38 |
NM_001174066 | chr8:g.38416007G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
NM_001174066.1 | chr8:g.38416007G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
NM_023105.2 | chr8:g.38416007G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_017013231.2 | chr8:g.38422759_38422761delTTAinsATG | c.1450_1452delTTAinsATG | p.L484M | RefSeq | GRCh38/hg38 |
XM_006716304 | chr8:g.38417972G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38417972G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_006716311.1 | chr8:g.38416007G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_006716311 | chr8:g.38416007G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
XM_006716312.2 | chr8:g.38416007G>T | c.1450C>A | p.L484M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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