Gene Variant Detail

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Gene FGFR1
Variant L614V
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR1 L614V lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). L614V demonstrates increased kinase activity compared to wild-type Fgfr1 in an in vitro assay (PMID: 28166054), 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 L614V

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Transcript NM_023110.3
gDNA chr8:g.38415884G>C
cDNA c.1840C>G
Protein p.L614V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011544450 chr8:g.38414593A>C c.1840T>G p.L614V RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38415884G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
XM_011544449.2 chr8:g.38414593A>C c.1840T>G p.L614V RefSeq GRCh38/hg38
NM_001174064.1 chr8:g.38414886G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
XM_011544446.3 chr8:g.38415983G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
NM_023110 chr8:g.38415884G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
XM_011544446 chr8:g.38415983G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
XM_011544450.2 chr8:g.38414593A>C c.1840T>G p.L614V RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38415884G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38415884G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
XM_006716304 chr8:g.38415884G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
XM_011544446.2 chr8:g.38415983G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38415884G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38415884G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
XM_017013226 chr8:g.38414593A>C c.1840T>G p.L614V RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38415884G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
XM_017013226.2 chr8:g.38414593A>C c.1840T>G p.L614V RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38415884G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38415884G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
XM_047421575.1 chr8:g.38415983G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
XM_017013221 chr8:g.38415884G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
XM_011544449 chr8:g.38414593A>C c.1840T>G p.L614V RefSeq GRCh38/hg38
NM_001174064 chr8:g.38414886G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
XM_017013226.1 chr8:g.38414593A>C c.1840T>G p.L614V RefSeq GRCh38/hg38
XM_011544443.2 chr8:g.38415983G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
XM_011544449.1 chr8:g.38414593A>C c.1840T>G p.L614V RefSeq GRCh38/hg38
XM_006716303 chr8:g.38415884G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
XM_011544443 chr8:g.38415983G>C c.1840C>G p.L614V RefSeq GRCh38/hg38
XM_011544450.3 chr8:g.38414593A>C c.1840T>G p.L614V RefSeq GRCh38/hg38
NM_001174064.2 chr8:g.38414886G>C c.1840C>G p.L614V 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

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  • 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