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 | T319A |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FGFR1 T319A lies within Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). T319A results in decreased proliferation relative to wild-type Fgfr1 in a competition assay and 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 T319A |
Transcript | NM_023110.3 |
gDNA | chr8:g.38421923T>C |
cDNA | c.955A>G |
Protein | p.T319A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006716304.2 | chr8:g.38421923T>C | c.955A>G | p.T319A | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38421923T>C | c.955A>G | p.T319A | RefSeq | GRCh38/hg38 |
NM_001174063.1 | chr8:g.38421923T>C | c.955A>G | p.T319A | RefSeq | GRCh38/hg38 |
XM_017013222.2 | chr8:g.38421923T>C | c.955A>G | p.T319A | RefSeq | GRCh38/hg38 |
NM_001174063.2 | chr8:g.38421923T>C | c.955A>G | p.T319A | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38421923T>C | c.955A>G | p.T319A | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38421923T>C | c.955A>G | p.T319A | RefSeq | GRCh38/hg38 |
XM_047421570.1 | chr8:g.38421923T>C | c.955A>G | p.T319A | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38421923T>C | c.955A>G | p.T319A | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38421923T>C | c.955A>G | p.T319A | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38421923T>C | c.955A>G | p.T319A | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38421923T>C | c.955A>G | p.T319A | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR1 T319A | loss of function - predicted |