FGFR1 R54C
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 FGFR1
Variant R54C
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR1 R54C lies within Ig-like C2-type domain 1 of the Fgfr1 protein (UniProt.org). R54C results in anchorage-independent colony formation similar to wild-type Fgfr1 but increased proliferation in culture (PMID: 40526877), and therefore, is predicted to lead to a gain of Fgfr1 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 act mut FGFR1 R54C

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_023110.3
gDNA chr8:g.38429880G>A
cDNA c.160C>T
Protein p.R54C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354367.2 chr8:g.38429880G>A c.160C>T p.R54C RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38429880G>A c.160C>T p.R54C RefSeq GRCh38/hg38
NM_015850.4 chr8:g.38429880G>A c.160C>T p.R54C RefSeq GRCh38/hg38
NM_001354369.2 chr8:g.38429880G>A c.160C>T p.R54C RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38429880G>A c.160C>T p.R54C RefSeq GRCh38/hg38
NM_001410922.1 chr8:g.38429880G>A c.160C>T p.R54C RefSeq GRCh38/hg38
NM_001174065.2 chr8:g.38429880G>A c.160C>T p.R54C 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 Protein Effect Treatment Approaches
FGFR1 R54C gain of function - predicted