Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene FGFR3
Variant E587Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR3 E587Q lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). E587Q has been identified in the scientific literature (PMID: 37377403), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jan 2024).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 E587Q

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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_000142.5
gDNA chr4:g.1805863G>C
cDNA c.1759G>C
Protein p.E587Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047449824.1 chr4:g.1805863G>C c.1759G>C p.E587Q RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1805860G>C c.1759G>C p.E587Q RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1805860G>C c.1759G>C p.E587Q RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1805863G>C c.1759G>C p.E587Q RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1805863G>C c.1759G>C p.E587Q RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1805860G>C c.1759G>C p.E587Q RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1805863G>C c.1759G>C p.E587Q RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1805863G>C c.1759G>C p.E587Q RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1805860G>C c.1759G>C p.E587Q 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
FGFR3 E587Q unknown
FGFR3 S249C FGFR3 E587Q FGFR3 amp PIK3CA E726Q TSC1 S561fs
FGFR3 S249C FGFR3 E587Q FGFR3 amp PIK3CA E726K TSC1 S561fs