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 | 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 |
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 |
---|---|---|---|---|---|
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_023106.3 | chr8:g.38414560C>T | c.1774G>A | p.V592M | RefSeq | GRCh38/hg38 |
XM_011544444.1 | 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_011544447.3 | 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 |
NM_001354370.2 | 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 |
XM_011544445.3 | chr8:g.38416043C>T | c.1774G>A | p.V592M | RefSeq | GRCh38/hg38 |
XM_011544445.2 | 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_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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|