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 | FGFR2 |
Variant | S252L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 S252L lies within the extracellular domain of the Fgfr2 protein (UniProt.org). S252L results in altered affinity for Fgfr ligands in in vitro assays when combined with A315S (PMID: 15282208), but has not been characterized individually and therefore, its effect on Fgfr2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 exon7 FGFR2 S252L |
Transcript | NM_000141.5 |
gDNA | chr10:g.121520163G>A |
cDNA | c.755C>T |
Protein | p.S252L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001320658.2 | chr10:g.121520163G>A | c.755C>T | p.S252L | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121520163G>A | c.755C>T | p.S252L | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121520163G>A | c.755C>T | p.S252L | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121520163G>A | c.755C>T | p.S252L | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121520163G>A | c.755C>T | p.S252L | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121520163G>A | c.755C>T | p.S252L | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121520163G>A | c.755C>T | p.S252L | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121520163G>A | c.755C>T | p.S252L | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121520163G>A | c.755C>T | p.S252L | RefSeq | GRCh38/hg38 |
NM_001144917.1 | chr10:g.121520163G>A | c.755C>T | p.S252L | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121520163G>A | c.755C>T | p.S252L | RefSeq | GRCh38/hg38 |
NM_001144917.2 | chr10:g.121520163G>A | c.755C>T | p.S252L | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121520163G>A | c.755C>T | p.S252L | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121520163G>A | c.755C>T | p.S252L | RefSeq | GRCh38/hg38 |
NM_001144917 | chr10:g.121520163G>A | c.755C>T | p.S252L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|