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 | A268S |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR1 A268S lies within Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). A268S results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785) and transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 A268S |
Transcript | NM_023110.3 |
gDNA | chr8:g.38424643C>A |
cDNA | c.802G>T |
Protein | p.A268S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017013221.1 | chr8:g.38424643C>A | c.802G>T | p.A268S | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38424643C>A | c.802G>T | p.A268S | RefSeq | GRCh38/hg38 |
XM_017013222 | chr8:g.38424643C>A | c.802G>T | p.A268S | RefSeq | GRCh38/hg38 |
NM_001174063 | chr8:g.38424643C>A | c.802G>T | p.A268S | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38424643C>A | c.802G>T | p.A268S | RefSeq | GRCh38/hg38 |
NM_023110 | chr8:g.38424643C>A | c.802G>T | p.A268S | RefSeq | GRCh38/hg38 |
XM_017013221 | chr8:g.38424643C>A | c.802G>T | p.A268S | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38424643C>A | c.802G>T | p.A268S | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38424643C>A | c.802G>T | p.A268S | RefSeq | GRCh38/hg38 |
NM_001174063.1 | chr8:g.38424643C>A | c.802G>T | p.A268S | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38424643C>A | c.802G>T | p.A268S | RefSeq | GRCh38/hg38 |
XM_047421570.1 | chr8:g.38424643C>A | c.802G>T | p.A268S | RefSeq | GRCh38/hg38 |
XM_006716303 | chr8:g.38424643C>A | c.802G>T | p.A268S | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38424643C>A | c.802G>T | p.A268S | RefSeq | GRCh38/hg38 |
XM_006716304 | chr8:g.38424643C>A | c.802G>T | p.A268S | RefSeq | GRCh38/hg38 |
NM_001174063.2 | chr8:g.38424643C>A | c.802G>T | p.A268S | RefSeq | GRCh38/hg38 |
XM_017013222.2 | chr8:g.38424643C>A | c.802G>T | p.A268S | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38424643C>A | c.802G>T | p.A268S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|