Gene Variant Detail

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Gene FGFR3
Variant H643D
Impact List missense
Protein Effect no effect
Gene Variant Descriptions FGFR3 H643D lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). H643D demonstrates autophosphorylation and substrate phosphorylation similar to wild-type Fgfr3 in cell culture (PMID: 26992226).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 H643D

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Transcript NM_000142.5
gDNA chr4:g.1806141C>G
cDNA c.1927C>G
Protein p.H643D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713873.1 chr4:g.1806141C>G c.1927C>G p.H643D RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1806141C>G c.1927C>G p.H643D RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1806141C>G c.1927C>G p.H643D RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1806141C>G c.1927C>G p.H643D RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1806141C>G c.1927C>G p.H643D RefSeq GRCh38/hg38
NM_000142 chr4:g.1806141C>G c.1927C>G p.H643D RefSeq GRCh38/hg38
XM_006713873 chr4:g.1806141C>G c.1927C>G p.H643D RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1806141C>G c.1927C>G p.H643D 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")

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.
  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
FGFR3 H643D no effect