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Gene | FGFR1 |
Variant | P277L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 P277L (corresponds to P366L in the canonical isoform) lies within Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). P277L 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 P277L |
Transcript | NM_023105.3 |
gDNA | chr8:g.38419720G>A |
cDNA | c.830C>T |
Protein | p.P277L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001174066.2 | chr8:g.38419720G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
NM_023105 | chr8:g.38419720G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
NM_001174064 | chr8:g.38424591G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
NM_023105.3 | chr8:g.38419720G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
XM_006716311.1 | chr8:g.38419720G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
NM_001174066.1 | chr8:g.38419720G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
XM_006716311.1 | chr8:g.38419720G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
XM_006716312.2 | chr8:g.38419720G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
NM_001174064.2 | chr8:g.38424591G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
XM_006716312 | chr8:g.38419720G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
XM_006716310.3 | chr8:g.38419720G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
XM_006716312.2 | chr8:g.38419720G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
NM_001174066 | chr8:g.38419720G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
NM_001174064.1 | chr8:g.38424591G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
XM_024447097.1 | chr8:g.38424591G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
XM_006716311 | chr8:g.38419720G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
XM_024447097.1 | chr8:g.38424591G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
XM_047421573.1 | chr8:g.38419720G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
NM_023105.2 | chr8:g.38419720G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
XM_006716310 | chr8:g.38419720G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
XM_006716309 | chr8:g.38424591G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
XM_006716310.4 | chr8:g.38419720G>A | c.830C>T | p.P277L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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