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 | C342F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 C342F lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). C342F has been identified in sequencing studies (PMID: 11781872), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 C342F |
Transcript | NM_000141.5 |
gDNA | chr10:g.121517378C>A |
cDNA | c.1025G>T |
Protein | p.C342F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.5 | chr10:g.121517378C>A | c.1025G>T | p.C342F | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121517378C>A | c.1025G>T | p.C342F | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121517378C>A | c.1025G>T | p.C342F | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121517378C>A | c.1025G>T | p.C342F | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121517378C>A | c.1025G>T | p.C342F | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121517378C>A | c.1025G>T | p.C342F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|