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Gene FGFR3
Variant D764H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR3 D764H (corresponds to D762H in the canonical isoform) lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). D764H results in increased proliferation in some cell culture conditions, but not others (PMID: 27053219) and therefore, its effect on Fgfr3 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 D764H

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Transcript NM_001163213.2
gDNA chr4:g.1807125G>C
cDNA c.2290G>C
Protein p.D764H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011513422.1 chr4:g.1807125G>C c.2290G>C p.D764H RefSeq GRCh38/hg38
NM_001163213 chr4:g.1807125G>C c.2290G>C p.D764H RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1807125G>C c.2290G>C p.D764H RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1807125G>C c.2290G>C p.D764H RefSeq GRCh38/hg38
XM_011513422 chr4:g.1807125G>C c.2290G>C p.D764H RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1807125G>C c.2290G>C p.D764H 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.
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Molecular Profile Protein Effect Treatment Approaches
FGFR3 D764H unknown