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@jax.org

Gene FGFR1
Variant W4C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR1 W4C does not lie within any known functional domains of the Fgfr1 protein (UniProt.org). W4C has been identified in the scientific literature (PMID: 34593528), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Mar 2024).
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 W4C

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.38457435C>A
cDNA c.12G>T
Protein p.W4C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006716314.2 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_006716310.3 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_015850.4 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_047421573.1 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_017013225.2 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_001354368.1 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_001354369.1 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_006716310.4 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_001174063.1 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_001354367.1 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_001354370.2 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_017013225.3 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_015850.3 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_023105.3 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_006716311.1 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_023106.3 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_006716314.3 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_001354369.2 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_006716307.2 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_001174065.2 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_047421569.1 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_001410922.1 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_001354370.1 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_006716312.2 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_001174066.1 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_001354367.2 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_023106.2 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_001174065.1 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_023105.2 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_001174066.2 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_006716307.1 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_006716311.1 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_006716312.2 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_017013224.2 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_001354368.2 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_047421574.1 chr8:g.38457435C>A c.12G>T p.W4C RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38457435C>A c.12G>T p.W4C 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