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 R255Q
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions FGFR2 R255Q lies within the extracellular domain of the Fgfr2 protein (UniProt.org). R255Q results in decreased activation of Fgfr2 downstream signaling upon Fgf2 stimulation in culture (PMID: 27323706), and therefore, is predicted to lead to a loss of Fgfr2 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 exon7 FGFR2 R255Q

FGFR2 mutant FGFR2 inact mut FGFR2 R255Q

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.121520154C>T
cDNA c.764G>A
Protein p.R255Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_022970.4 chr10:g.121520154C>T c.764G>A p.R255Q RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121520154C>T c.764G>A p.R255Q RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121520154C>T c.764G>A p.R255Q RefSeq GRCh38/hg38
NM_001144917 chr10:g.121520154C>T c.764G>A p.R255Q RefSeq GRCh38/hg38
NM_022970 chr10:g.121520154C>T c.764G>A p.R255Q RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121520154C>T c.764G>A p.R255Q RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520154C>T c.764G>A p.R255Q RefSeq GRCh38/hg38
NM_001144917.1 chr10:g.121520154C>T c.764G>A p.R255Q RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121520154C>T c.764G>A p.R255Q RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520154C>T c.764G>A p.R255Q RefSeq GRCh38/hg38
NM_001144917.2 chr10:g.121520154C>T c.764G>A p.R255Q RefSeq GRCh38/hg38
NM_001320658 chr10:g.121520154C>T c.764G>A p.R255Q RefSeq GRCh38/hg38
NM_001144913 chr10:g.121520154C>T c.764G>A p.R255Q RefSeq GRCh38/hg38
NM_000141 chr10:g.121520154C>T c.764G>A p.R255Q RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121520154C>T c.764G>A p.R255Q 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 R255Q loss of function - predicted