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 P250S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR3 P250S lies within the extracellular domain of the Fgfr3 protein (UniProt.org). P250S has been identified in the scientific literature (PMID: 26319365), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2024).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 P250S

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_000142.5
gDNA chr4:g.1801843C>T
cDNA c.748C>T
Protein p.P250S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713871.2 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_006713868 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
NM_001163213 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
NM_000142 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
NM_022965.3 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_006713871 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_006713868.2 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
NM_022965 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_006713869 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_006713872 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_006713870.2 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_006713868.1 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_047449821.1 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_011513420 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_006713869.1 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
NM_022965.4 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_047449820.1 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_006713869.2 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_006713873 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_006713870 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1801843C>T c.748C>T p.P250S RefSeq GRCh38/hg38
XM_011513422 chr4:g.1801843C>T c.748C>T p.P250S 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries