Gene Variant Detail

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Gene FGFR1
Variant V592M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR1 V592M (corresponds to V561M in the canonical isoform) lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). V592M has been identified in the scientific literature (PMID: 34250399), 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 V592M

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Transcript NM_001174067.2
gDNA chr8:g.38416043C>T
cDNA c.1774G>A
Protein p.V592M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011544445.3 chr8:g.38416043C>T c.1774G>A p.V592M RefSeq GRCh38/hg38
XM_006716314.3 chr8:g.38414560C>T c.1774G>A p.V592M RefSeq GRCh38/hg38
XM_011544446.3 chr8:g.38416047_38416049delGTCinsATG c.1774_1776delGTCinsATG p.V592M RefSeq GRCh38/hg38
XM_011544445.2 chr8:g.38416043C>T c.1774G>A p.V592M RefSeq GRCh38/hg38
XM_011544444.2 chr8:g.38416043C>T c.1774G>A p.V592M RefSeq GRCh38/hg38
XM_011544447.3 chr8:g.38416043C>T c.1774G>A p.V592M RefSeq GRCh38/hg38
XM_011544447.2 chr8:g.38416043C>T c.1774G>A p.V592M RefSeq GRCh38/hg38
NM_001354370.2 chr8:g.38414560C>T c.1774G>A p.V592M RefSeq GRCh38/hg38
XM_047421575.1 chr8:g.38416047_38416049delGTCinsATG c.1774_1776delGTCinsATG p.V592M RefSeq GRCh38/hg38
XM_011544444.1 chr8:g.38416043C>T c.1774G>A p.V592M RefSeq GRCh38/hg38
NM_023106.3 chr8:g.38414560C>T c.1774G>A p.V592M RefSeq GRCh38/hg38
NM_001174067.2 chr8:g.38416043C>T c.1774G>A p.V592M RefSeq GRCh38/hg38
NM_001174067.1 chr8:g.38416043C>T c.1774G>A p.V592M RefSeq GRCh38/hg38
XM_047421573.1 chr8:g.38414560C>T c.1774G>A p.V592M RefSeq GRCh38/hg38

Filtering

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  • 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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Molecular Profile Protein Effect Treatment Approaches
FGFR1 V592M unknown
FGFR1 V592M FGFR1 K687E