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 FGFR3
Variant R399C
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions FGFR3 R399C lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). R399C has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Fgfr3 in culture (PMID: 29533785) and therefore, is predicted to have no effect on Fgfr3 protein function.
Associated Drug Resistance

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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
gDNA chr4:g.1804449C>T
cDNA c.1195C>T
Protein p.R399C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011513420 chr4:g.1804449C>T c.1195C>T p.R399C RefSeq GRCh38/hg38
XM_006713870 chr4:g.1804443C>T c.1195C>T p.R399C RefSeq GRCh38/hg38
NM_001163213 chr4:g.1804443C>T c.1195C>T p.R399C RefSeq GRCh38/hg38
XM_006713872 chr4:g.1804449C>T c.1195C>T p.R399C RefSeq GRCh38/hg38
XM_011513422 chr4:g.1804449C>T c.1195C>T p.R399C RefSeq GRCh38/hg38
XM_006713873 chr4:g.1804449C>T c.1195C>T p.R399C RefSeq GRCh38/hg38
NM_000142 chr4:g.1804449C>T c.1195C>T p.R399C RefSeq GRCh38/hg38
XM_006713871 chr4:g.1804443C>T c.1195C>T p.R399C RefSeq GRCh38/hg38
XM_006713869 chr4:g.1804443C>T c.1195C>T p.R399C RefSeq GRCh38/hg38
XM_006713868 chr4:g.1804443C>T c.1195C>T p.R399C RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 R399C no effect - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References