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 FGFR2
Variant R251Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FGFR2 R251Q lies within the region linking Ig-like domains II and III of the Fgfr2 protein (PMID: 11121055). R251Q results in proliferation similar to wild-type Fgfr2 in a competition assay and transformation activity similar to wild-type in cultured cells (PMID: 34272467), but confers a loss of function on the Fgfr2 protein as demonstrated by loss of ligand binding and diminished Mapk activation upon Fgf2 stimulation in cell culture (PMID: 19147536).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 exon7 FGFR2 R251Q

FGFR2 mutant FGFR2 inact mut FGFR2 R251Q

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_000141.5
gDNA chr10:g.121520166C>T
cDNA c.752G>A
Protein p.R251Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001320658.2 chr10:g.121520166C>T c.752G>A p.R251Q RefSeq GRCh38/hg38
NM_001144917.2 chr10:g.121520166C>T c.752G>A p.R251Q RefSeq GRCh38/hg38
NM_000141 chr10:g.121520166C>T c.752G>A p.R251Q RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121520166C>T c.752G>A p.R251Q RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520166C>T c.752G>A p.R251Q RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520166C>T c.752G>A p.R251Q RefSeq GRCh38/hg38
NM_001144917.1 chr10:g.121520166C>T c.752G>A p.R251Q RefSeq GRCh38/hg38
NM_001144917 chr10:g.121520166C>T c.752G>A p.R251Q RefSeq GRCh38/hg38
NM_022970 chr10:g.121520166C>T c.752G>A p.R251Q RefSeq GRCh38/hg38
NM_001320658 chr10:g.121520166C>T c.752G>A p.R251Q RefSeq GRCh38/hg38
NM_001144913 chr10:g.121520166C>T c.752G>A p.R251Q RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121520166C>T c.752G>A p.R251Q RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121520166C>T c.752G>A p.R251Q RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121520166C>T c.752G>A p.R251Q RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121520166C>T c.752G>A p.R251Q 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
FGFR2 R251Q loss of function