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 FGFR1
Variant C178S
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR1 C178S lies within Ig-like C2-type domain 2 of the Fgfr1 protein (UniProt.org). C178S results in stabilization of the Fgfr1 dimer state in an in vitro assay (PMID: 27596331), 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 C178S

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.38428010A>T
cDNA c.532T>A
Protein p.C178S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_023110.2 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
NM_001174063.1 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
NM_023110 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_006716304 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_017013222 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_017013221 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_006716303 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
NM_001174063 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38428010A>T c.532T>A p.C178S 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