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 R424C
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions FGFR1 R424C lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). R424C has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 R424C

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.38419547G>A
cDNA c.1270C>T
Protein p.R424C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001174063.1 chr8:g.38419547G>A c.1270C>T p.R424C RefSeq GRCh38/hg38
NM_023110 chr8:g.38419547G>A c.1270C>T p.R424C RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38419547G>A c.1270C>T p.R424C RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38419547G>A c.1270C>T p.R424C RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38419547G>A c.1270C>T p.R424C RefSeq GRCh38/hg38
XM_017013222 chr8:g.38419547G>A c.1270C>T p.R424C RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38419547G>A c.1270C>T p.R424C RefSeq GRCh38/hg38
NM_001174063 chr8:g.38419547G>A c.1270C>T p.R424C RefSeq GRCh38/hg38
XM_006716304 chr8:g.38419547G>A c.1270C>T p.R424C RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38419547G>A c.1270C>T p.R424C RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38419547G>A c.1270C>T p.R424C RefSeq GRCh38/hg38
XM_017013221 chr8:g.38419547G>A c.1270C>T p.R424C RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38419547G>A c.1270C>T p.R424C RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38419547G>A c.1270C>T p.R424C RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38419547G>A c.1270C>T p.R424C RefSeq GRCh38/hg38
XM_006716303 chr8:g.38419547G>A c.1270C>T p.R424C RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38419547G>A c.1270C>T p.R424C RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38419547G>A c.1270C>T p.R424C 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