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 FGFR3
Variant G384D
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 G384D (corresponds to G382D in the canonical isoform) lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). G384D is not transforming but results in increased phosphorylation of Mapk, Stat1, and Stat3 in culture (PMID: 11429702), and therefore, is predicted to lead to a gain of Fgfr3 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 G384D

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_001163213.2
gDNA chr4:g.1804399G>A
cDNA c.1151G>A
Protein p.G384D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713870 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_047449820.1 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
NM_001163213 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_006713870.2 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_006713869.2 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_006713869 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_006713871 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_006713868 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_006713868.2 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_006713871.2 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_047449821.1 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_006713868.1 chr4:g.1804399G>A c.1151G>A p.G384D RefSeq GRCh38/hg38
XM_006713869.1 chr4:g.1804399G>A c.1151G>A p.G384D 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