Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | FGFR1 |
| Variant | A354V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR1 A354V lies within Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). A354V has been identified in the scientific literature (PMID: 37889382), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR1 mutant FGFR1 A354V |
| Transcript | NM_023110.3 |
| gDNA | chr8:g.38421817G>A |
| cDNA | c.1061C>T |
| Protein | p.A354V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001174063.2 | chr8:g.38421817G>A | c.1061C>T | p.A354V | RefSeq | GRCh38/hg38 |
| NM_023110.3 | chr8:g.38421817G>A | c.1061C>T | p.A354V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FGFR1 A354V | unknown |