FGFR1 R250W - Gene Variant Detail

Request Content

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 FGFR1
Variant R250W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR1 R250W lies within the D2-D3 linker region of the Fgfr1 protein (PMID: 23276709). R250W results in similar cell proliferation and viability levels to wild-type Fgfr1 in two different cell lines in culture in one study (PMID: 29533785), decreased proliferation relative to wild-type Fgfr1 in a competition assay, and transformation activity similar to wild-type Fgfr1 in another study (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 R250W

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_023110.3
gDNA chr8:g.38424697G>A
cDNA c.748C>T
Protein p.R250W
Source Database RefSeq
Genome Build 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.