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 | I288_E295delinsT |
Impact List | indel |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 I288_E295delinsT results in deletion of eight amino acids in Ig-like C2-type domain 3 of the Fgfr2 protein from amino acids 288 to 295, combined with the insertion of a threonine (T) at the same location (UniProt.org). I288_E295delinsT has been identified in the scientific literature (PMID: 33926920), 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 exon7 FGFR2 exon 7 del FGFR2 I288_E295delinsT |
Transcript | NM_000141.5 |
gDNA | chr10:g.121520033_121520056delinsTGT |
cDNA | c.862_885delinsACA |
Protein | p.I288_E295delinsT |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001320658.1 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
NM_001144917.2 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
NM_001144917.1 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121520033_121520056delinsTGT | c.862_885delinsACA | p.I288_E295delinsT | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 I288_E295delinsT | unknown |