FGFR3 Y647C
Gene Variant Detail

Request Content

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 Y647C
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 Y647C lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). Y647C results in increased Fgfr3 autophosphorylation in cell culture (PMID: 26992226), 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 Y647C

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.1806154A>G
cDNA c.1940A>G
Protein p.Y647C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713873.1 chr4:g.1806154A>G c.1940A>G p.Y647C RefSeq GRCh38/hg38
XM_006713873 chr4:g.1806154A>G c.1940A>G p.Y647C RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1806154A>G c.1940A>G p.Y647C RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1806154A>G c.1940A>G p.Y647C RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1806154A>G c.1940A>G p.Y647C RefSeq GRCh38/hg38
NM_000142 chr4:g.1806154A>G c.1940A>G p.Y647C RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1806154A>G c.1940A>G p.Y647C RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1806154A>G c.1940A>G p.Y647C 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