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@jax.org
Gene | FGFR1 |
Variant | S430F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 S430F lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). S430F has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 S430F |
Transcript | NM_023110.3 |
gDNA | chr8:g.38418369G>A |
cDNA | c.1289C>T |
Protein | p.S430F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_023110.2 | chr8:g.38418369G>A | c.1289C>T | p.S430F | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38418369G>A | c.1289C>T | p.S430F | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38418369G>A | c.1289C>T | p.S430F | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38418369G>A | c.1289C>T | p.S430F | RefSeq | GRCh38/hg38 |
NM_001410922.1 | chr8:g.38418357_38418358delAGinsTT | c.1288_1289delAGinsTT | p.S430F | RefSeq | GRCh38/hg38 |
XM_006716303 | chr8:g.38418369G>A | c.1289C>T | p.S430F | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38418369G>A | c.1289C>T | p.S430F | RefSeq | GRCh38/hg38 |
XM_017013224.2 | chr8:g.38418357_38418358delAGinsTT | c.1288_1289delAGinsTT | p.S430F | RefSeq | GRCh38/hg38 |
NM_001354369.2 | chr8:g.38418357_38418358delAGinsTT | c.1288_1289delAGinsTT | p.S430F | RefSeq | GRCh38/hg38 |
NM_023110 | chr8:g.38418369G>A | c.1289C>T | p.S430F | RefSeq | GRCh38/hg38 |
XM_017013225.3 | chr8:g.38418357_38418358delAGinsTT | c.1288_1289delAGinsTT | p.S430F | RefSeq | GRCh38/hg38 |
XM_017013221 | chr8:g.38418369G>A | c.1289C>T | p.S430F | RefSeq | GRCh38/hg38 |
XM_017013225.2 | chr8:g.38418357_38418358delAGinsTT | c.1288_1289delAGinsTT | p.S430F | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38418369G>A | c.1289C>T | p.S430F | RefSeq | GRCh38/hg38 |
XM_047421569.1 | chr8:g.38418357_38418358delAGinsTT | c.1288_1289delAGinsTT | p.S430F | RefSeq | GRCh38/hg38 |
NM_001354369.1 | chr8:g.38418357_38418358delAGinsTT | c.1288_1289delAGinsTT | p.S430F | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38418369G>A | c.1289C>T | p.S430F | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38418369G>A | c.1289C>T | p.S430F | RefSeq | GRCh38/hg38 |
XM_006716304 | chr8:g.38418369G>A | c.1289C>T | p.S430F | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR1 S430F | unknown |