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 | 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 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144917 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
XM_006717708.4 | chr10:g.121551452_121564514del13063 | c.499_519del13063 | p.S167_P173delSNNKRAP | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173delHAVPAAN | RefSeq | GRCh38/hg38 |
XM_017015920.3 | chr10:g.121551452_121564514del13063 | c.499_519del13063 | p.S167_P173delSNNKRAP | RefSeq | GRCh38/hg38 |
NM_001144919.2 | chr10:g.121520133_121520153del21 | c.501_521del21 | p.I168_P174delILQAGLP | RefSeq | GRCh38/hg38 |
XM_017015924.3 | chr10:g.121520113_121520133del21 | c.499_519del21 | p.P167_V173delPANASTV | RefSeq | GRCh38/hg38 |
XM_024447889.2 | chr10:g.121538611_121538631del21 | c.502_522del21 | p.G168_Y174delGSINHTY | RefSeq | GRCh38/hg38 |
XM_024447887.2 | chr10:g.121538611_121538631del21 | c.502_522del21 | p.G168_Y174delGSINHTY | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173delHAVPAAN | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173delHAVPAAN | RefSeq | GRCh38/hg38 |
NM_001144914 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
NM_023029.2 | chr10:g.121520133_121520153del21 | c.501_521del21 | p.I168_P174delILQAGLP | RefSeq | GRCh38/hg38 |
XM_024447891.2 | chr10:g.121520113_121520133del21 | c.499_519del21 | p.P167_V173delPANASTV | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
NM_001144917.2 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173delHAVPAAN | RefSeq | GRCh38/hg38 |
NM_001144918.2 | chr10:g.121520055_121520075del21 | c.499_519del21 | p.S167_I173delSDAQPHI | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
NM_001320654.2 | chr10:g.121515201_121515221del21 | c.499_519del21 | p.V167_K173delVILCRMK | RefSeq | GRCh38/hg38 |
XM_017015921.3 | chr10:g.121551452_121564514del13063 | c.499_519del13063 | p.S167_P173delSNNKRAP | RefSeq | GRCh38/hg38 |
NM_001144916.2 | chr10:g.121520055_121520075del21 | c.499_519del21 | p.S167_I173delSDAQPHI | RefSeq | GRCh38/hg38 |
NM_001144917.1 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173delHAVPAAN | RefSeq | GRCh38/hg38 |
XM_017015925.3 | chr10:g.121520113_121520133del21 | c.499_519del21 | p.P167_V173delPANASTV | RefSeq | GRCh38/hg38 |
NM_001144915.2 | chr10:g.121520133_121520153del21 | c.501_521del21 | p.I168_P174delILQAGLP | RefSeq | GRCh38/hg38 |
XM_024447890.2 | chr10:g.121538611_121538631del21 | c.502_522del21 | p.G168_Y174delGSINHTY | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173delHAVPAAN | RefSeq | GRCh38/hg38 |
XM_006717710.5 | chr10:g.121551452_121564514del13063 | c.499_519del13063 | p.S167_P173delSNNKRAP | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
XM_024447888.2 | chr10:g.121538611_121538631del21 | c.502_522del21 | p.G168_Y174delGSINHTY | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|