Gene Variant Detail

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Gene FGFR3
Variant E360Q
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions FGFR3 E360Q does not lie within any known functional domains of the Fgfr3 protein (UniProt.org). E360Q has not been biochemically characterized, but is predicted to confer a loss of function on the Fgfr3 protein as demonstrated by decreased transformation ability as compared to wild-type Fgfr3 (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 inact mut FGFR3 E360Q

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Transcript NM_000142.4
gDNA chr4:g.1804332G>C
cDNA c.1078G>C
Protein p.E360Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011513422 chr4:g.1804332G>C c.1078G>C p.E360Q RefSeq GRCh38/hg38
XM_006713872 chr4:g.1804332G>C c.1078G>C p.E360Q RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1804332G>C c.1078G>C p.E360Q RefSeq GRCh38/hg38
NM_000142 chr4:g.1804332G>C c.1078G>C p.E360Q RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1804332G>C c.1078G>C p.E360Q RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1804332G>C c.1078G>C p.E360Q RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1804332G>C c.1078G>C p.E360Q RefSeq GRCh38/hg38
XM_006713873 chr4:g.1804332G>C c.1078G>C p.E360Q RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1804332G>C c.1078G>C p.E360Q RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1804332G>C c.1078G>C p.E360Q RefSeq GRCh38/hg38
XM_011513420 chr4:g.1804332G>C c.1078G>C p.E360Q RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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")

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