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Gene | FGFR1 |
Variant | E138* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 E138* results in a premature truncation of the Fgfr1 protein at amino acid 138 of 822 (UniProt.org). E138* results in a loss of multiple functional domains (UniProt.org), but also results in similar cell proliferation and viability compared to wild-type Fgfr1 in culture (PMID: 29533785), and therefore, its effect on Fgfr1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 E138* |
Transcript | NM_023110.3 |
gDNA | chr8:g.38428382C>A |
cDNA | c.412G>T |
Protein | p.E138* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017013221 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
NM_015850 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
NM_001174065 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_006716306 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_011544451.1 | chr8:g.38426164C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
NM_001410922.1 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
NM_023110 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_017013229 | chr8:g.38418274C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
NM_001354367.2 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_017013224.2 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
NM_015850.4 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_006716303 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_011544450.2 | chr8:g.38427956C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_017013223 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
NM_001354369.2 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_017013230.1 | chr8:g.38418274C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_017013224 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
NM_001174063.1 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_017013230 | chr8:g.38418274C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
NM_001354367.1 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_006716307.2 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_011544451 | chr8:g.38426164C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_006716304 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_011544449 | chr8:g.38427956C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_017013225 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_017013229.2 | chr8:g.38418274C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_017013227.1 | chr8:g.38427956C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
NM_001174063.2 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_011544451.1 | chr8:g.38426164C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_017013227 | chr8:g.38427956C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_017013227.2 | chr8:g.38427956C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
NM_001174063 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_047421570.1 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_006716307 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
NM_015850.3 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
NM_001354369.1 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_047421569.1 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_011544449.2 | chr8:g.38427956C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_011544449.1 | chr8:g.38427956C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_006716307.1 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_017013225.2 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
NM_001174065.1 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_047421572.1 | chr8:g.38427956C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_017013222.2 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_011544450 | chr8:g.38427956C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
NM_001174065.2 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_017013222 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_011544450.3 | chr8:g.38427956C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
XM_017013225.3 | chr8:g.38428382C>A | c.412G>T | p.E138* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR1 E138* | unknown |