Gene Variant Detail

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Gene FGFR3
Variant V50I
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 V50I lies within the Ig-like C2-type domain 1 of the Fgfr3 protein (UniProt.org). V50I has not been biochemically characterized, but is predicted to confer a gain of function on the Fgfr3 protein as demonstrated by increased transformation ability in cell culture (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 V50I

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Transcript NM_000142.4
gDNA chr4:g.1799292G>A
cDNA c.148G>A
Protein p.V50I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713871 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
XM_006713868.1 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
NM_022965.3 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
XM_011513420 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
XM_006713873 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
NM_001163213 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
XM_006713872 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
NM_000142 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
NM_022965 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
XM_006713869 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
XM_006713870 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
XM_006713869.1 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
XM_006713868 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
XM_011513422 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1799292G>A c.148G>A p.V50I RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References