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Gene | FGFR2 |
Variant | E160A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 E160A lies within Ig-like C2-type domain 2 of the Fgfr2 protein (UniProt.org). E160A is predicted to disrupt Fgfr2-heparan sulfate interaction and Fgfr dimerization based on structural modeling (PMID: 19147536), 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 exon5 FGFR2 E160A |
Transcript | NM_000141.5 |
gDNA | chr10:g.121551435T>G |
cDNA | c.479A>C |
Protein | p.E160A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144918.1 | chr10:g.121520094T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121551435T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121551435T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121551435T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_001144916.1 | chr10:g.121520094T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121551435T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_001144917.1 | chr10:g.121551435T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121551435T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121551435T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
XM_017015921.3 | chr10:g.121564534T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
XM_017015921 | chr10:g.121564534T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_001144918.2 | chr10:g.121520094T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121551435T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121551435T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121551435T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
XM_006717708.3 | chr10:g.121564534T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_001144917 | chr10:g.121551435T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_001144916 | chr10:g.121520094T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
XM_017015921.2 | chr10:g.121564534T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121551435T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
XM_006717710.4 | chr10:g.121564534T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
XM_017015920 | chr10:g.121564534T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_001144916.2 | chr10:g.121520094T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121551435T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121551435T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
XM_017015920.3 | chr10:g.121564534T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_001144917.2 | chr10:g.121551435T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
XM_006717710 | chr10:g.121564534T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
XM_017015920.2 | chr10:g.121564534T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
XM_006717708 | chr10:g.121564534T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
XM_006717708.4 | chr10:g.121564534T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_001144914 | chr10:g.121551435T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121551435T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
XM_006717710.5 | chr10:g.121564534T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_001144918 | chr10:g.121520094T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121551435T>G | c.479A>C | p.E160A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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