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 L484M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR1 L484M lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). L484M has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 L484M

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.38417972G>T
cDNA c.1450C>A
Protein p.L484M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_023105.2 chr8:g.38416007G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_017013221 chr8:g.38417972G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
NM_023105 chr8:g.38416007G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_006716304 chr8:g.38417972G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_006716310.4 chr8:g.38416007G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_017013231.2 chr8:g.38422759_38422761delTTAinsATG c.1450_1452delTTAinsATG p.L484M RefSeq GRCh38/hg38
XM_006716310.3 chr8:g.38416007G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_011544451.1 chr8:g.38415983G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_006716311.1 chr8:g.38416007G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
NM_023110 chr8:g.38417972G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
NM_001174066.1 chr8:g.38416007G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38417972G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38417972G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_006716312 chr8:g.38416007G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
NM_001174064.1 chr8:g.38417942A>T c.1450T>A p.L484M RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38417972G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
NM_001174064 chr8:g.38417942A>T c.1450T>A p.L484M RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38417972G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
NM_023105.3 chr8:g.38416007G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_017013231.1 chr8:g.38422759_38422761delTTAinsATG c.1450_1452delTTAinsATG p.L484M RefSeq GRCh38/hg38
XM_006716310 chr8:g.38416007G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_006716312.2 chr8:g.38416007G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38417972G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_006716311.1 chr8:g.38416007G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_017013231 chr8:g.38422759_38422761delTAAinsCAT c.1450_1452delTTAinsATG p.L484M RefSeq GRCh38/hg38
NM_001174066 chr8:g.38416007G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_011544451.1 chr8:g.38415983G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38417972G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_006716311 chr8:g.38416007G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
NM_001174066.2 chr8:g.38416007G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_006716303 chr8:g.38417972G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_006716312.2 chr8:g.38416007G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_011544451 chr8:g.38415983G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38417972G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38417972G>T c.1450C>A p.L484M RefSeq GRCh38/hg38
NM_001174064.2 chr8:g.38417942A>T c.1450T>A p.L484M 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