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Gene | FGFR3 |
Variant | D785N |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR3 D785N lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). D785N results in similar cell proliferation and viability levels as wild-type Fgfr3 in culture (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr3 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 D785N |
Transcript | NM_000142.5 |
gDNA | chr4:g.1807194G>A |
cDNA | c.2353G>A |
Protein | p.D785N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047449824.1 | chr4:g.1807194G>A | c.2353G>A | p.D785N | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1807194G>A | c.2353G>A | p.D785N | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1807194G>A | c.2353G>A | p.D785N | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1807194G>A | c.2353G>A | p.D785N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR3 D785N | no effect - predicted |