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Gene | FGFR1 |
Variant | R189C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 R189C lies within Ig-like C2-type domain 2 of the Fgfr1 protein (UniProt.org). R189C results in an increased growth advantage in a competition assay but transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 R189C |
Transcript | NM_023110.3 |
gDNA | chr8:g.38427977G>A |
cDNA | c.565C>T |
Protein | p.R189C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_023110.2 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
NM_001174063.1 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
XM_017013222.2 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
NM_001174063.2 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
XM_047421570.1 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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