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Gene | FGFR2 |
Variant | H167_N173del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 H167_N173del results in the deletion of seven amino acids in Ig-like C2-type domain 2 of the Fgfr2 protein from amino acids 167 to 173 (UniProt.org). H167_N173del results in cell transformation (J Clin Oncol 38, 2020 (suppl 4; abstr 567), PMID: 33926920), increased proliferation, invasion, and migration (PMID: 37964396), anchorage-independent growth, constitutive activation of Fgfr2 kinase activity in culture, and tumor formation in an in vivo model (PMID: 33926920). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 H167_N173del FGFR2 mutant FGFR2 exon5 FGFR2 exon 5 del FGFR2 H167_N173del |
Transcript | NM_000141.5 |
gDNA | chr10:g.121551396_121551416del21 |
cDNA | c.499_519del21 |
Protein | p.H167_N173delHAVPAAN |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |