Gene Variant Detail

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Gene FGFR3
Variant S351C
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions FGFR3 S351C lies within Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). S351C results in decreased transformation ability compared to wild-type Fgfr3 in cultured cells (PMID: 29533785), and therefore, is predicted to lead to a loss of Fgfr3 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 inact mut FGFR3 S351C

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Transcript NM_000142.5
gDNA chr4:g.1803813C>G
cDNA c.1052C>G
Protein p.S351C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000142.4 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
XM_011513422 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
NM_000142 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
XM_011513420 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
XM_006713872 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38
XM_006713873 chr4:g.1803813C>G c.1052C>G p.S351C RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References