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, Mar 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_011544447.3 chr8:g.38416043C>T c.1774G>A p.V592M RefSeq GRCh38/hg38
NM_001174067.2 chr8:g.38416043C>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_011544446.3 chr8:g.38416047_38416049delGTCinsATG c.1774_1776delGTCinsATG p.V592M RefSeq GRCh38/hg38
NM_001174067.1 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_011544444.2 chr8:g.38416043C>T c.1774G>A p.V592M RefSeq GRCh38/hg38
XM_011544444.1 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_047421573.1 chr8:g.38414560C>T c.1774G>A p.V592M RefSeq GRCh38/hg38
NM_023106.3 chr8:g.38414560C>T c.1774G>A p.V592M RefSeq GRCh38/hg38
XM_011544445.2 chr8:g.38416043C>T c.1774G>A p.V592M RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References