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Gene | FGFR2 |
Variant | C342R |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 C342R lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). C342R results in constitutive activation of the Fgfr2 dimer state in an in vitro assay (PMID: 27596331), and therefore, is predicted to lead to a gain of Fgfr2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 C342R |
Transcript | NM_000141.5 |
gDNA | chr10:g.121517379A>G |
cDNA | c.1024T>C |
Protein | p.C342R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |