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@jax.org

Gene FGFR2
Variant M391R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR2 M391R lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). The functional effect of M391R is conflicting, as it has been reported to result in increased nucleolar Fgfr2 activity and cell proliferation in one study (PMID: 24908667), but results in similar cell proliferation and viability levels to wild-type Fgfr2 in two different cell lines in another study (PMID: 29533785), and therefore, its effect on Fgfr2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 M391R

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.121515232A>C
cDNA c.1172T>G
Protein p.M391R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141.5 chr10:g.121515232A>C c.1172T>G p.M391R RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121515232A>C c.1172T>G p.M391R RefSeq GRCh38/hg38
NM_000141 chr10:g.121515232A>C c.1172T>G p.M391R RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121515232A>C c.1172T>G p.M391R RefSeq GRCh38/hg38
NM_001320658 chr10:g.121515232A>C c.1172T>G p.M391R RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121515232A>C c.1172T>G p.M391R 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References