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Gene | FGFR1 |
Variant | S436F |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FGFR1 S436F lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). S436F results in proliferation similar to wild-type in a competition assay but decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 inact mut FGFR1 S436F |
Transcript | NM_023110.3 |
gDNA | chr8:g.38418351G>A |
cDNA | c.1307C>T |
Protein | p.S436F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_023110.2 | chr8:g.38418351G>A | c.1307C>T | p.S436F | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38418351G>A | c.1307C>T | p.S436F | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38418351G>A | c.1307C>T | p.S436F | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38418351G>A | c.1307C>T | p.S436F | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38418351G>A | c.1307C>T | p.S436F | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38418351G>A | c.1307C>T | p.S436F | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38418351G>A | c.1307C>T | p.S436F | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38418351G>A | c.1307C>T | p.S436F | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR1 S436F | loss of function - predicted |