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 N540K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 N540K lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). N540K results in increased Fgfr3 autophosphorylation and substrate phosphorylation, and is transforming in cell culture (PMID: 26992226).
Associated Drug Resistance Y
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 N540K

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.1805644C>G
cDNA c.1620C>G
Protein p.N540K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000142.4 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
NM_000142 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_006713870 chr4:g.1805635C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1805635C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_006713870.2 chr4:g.1805635C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_047449821.1 chr4:g.1805635C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_006713873 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1805644C>G c.1620C>G p.N540K 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