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Gene | FGFR2 |
Variant | S267_D273dup |
Impact List | duplication |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 S267_D273dup (also referred to as A266_S267insSTVVGGD) indicates the insertion of seven duplicate amino acids, serine (S)-267 through aspartic acid (D)-273, in Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). S267_D273dup confers a gain of function on Fgfr2 as demonstrated by ligand-independent phosphorylation, dimerization, and oncogenic cell transformation (PMID: 26048680). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 S267_D273dup FGFR2 mutant FGFR2 exon7 FGFR2 S267_D273dup |
Transcript | NM_000141.5 |
gDNA | chr10:g.121520099_121520119 |
cDNA | c.799_819 |
Protein | p.S267_D273 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144913.1 | chr10:g.121520099_121520119 | c.799_819 | p.S267_D273 | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121520099_121520119 | c.799_819 | p.S267_D273 | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121520099_121520119 | c.799_819 | p.S267_D273 | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121520099_121520119 | c.799_819 | p.S267_D273 | RefSeq | GRCh38/hg38 |
NM_001144917.1 | chr10:g.121520099_121520119 | c.799_819 | p.S267_D273 | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121520099_121520119 | c.799_819 | p.S267_D273 | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121520099_121520119 | c.799_819 | p.S267_D273 | RefSeq | GRCh38/hg38 |
NM_001144917.2 | chr10:g.121520099_121520119 | c.799_819 | p.S267_D273 | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121520099_121520119 | c.799_819 | p.S267_D273 | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121520099_121520119 | c.799_819 | p.S267_D273 | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121520099_121520119 | c.799_819 | p.S267_D273 | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121520099_121520119 | c.799_819 | p.S267_D273 | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121520099_121520119 | c.799_819 | p.S267_D273 | RefSeq | GRCh38/hg38 |
NM_001144917 | chr10:g.121520099_121520119 | c.799_819 | p.S267_D273 | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121520099_121520119 | c.799_819 | p.S267_D273 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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