Varaico: Literature-Extracted Genetic Variants

Gene:FBXO43
Variant:p.Y93C

FBXO43

51 papers

RefSeq Summary

Members of the F-box protein family, such as FBXO43, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-b...

Pfam Domains

FBXO43_HTHaa 440–482UCSCFBXO43 helix-turn-helix domain
F-boxaa 507–543UCSCF-box domain

Gene Aliases

HGNC Name

F-box protein 43

HGNC Alias Symbol

Fbx43

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001029860.4
p.Y93C
c.278A>G
Surrounding Variants
1 paper
NM_001029860.4
p.K91_E92Fs
c.272_275delinsAGGFs
1 paper
NM_001029860.4
p.K97delFs
c.289_290delTT
1 paper
NM_001029860.4
p.E98G
c.293A>G
1 paper
NM_001029860.4
p.Y78*
c.234C>G
1 paper
NM_001029860.4
p.Y78*
c.234C>A
1 paper
NM_001029860.4
p.E109Fs
c.326delinsGGAAGGTGAGCTATFs
2 papers
NM_001029860.4
p.S111L
c.332C>T
1 paper
NM_001029860.4
p.Q74H
c.222A>T
1 paper
NM_001029860.4
p.Q74H
c.222A>C
1 paper
NM_001029860.4
p.G112D
c.335G>A
1 paper
NM_001029860.4
p.G112delFs
c.335_336delGC
2 papers
NM_001029860.4
p.G114S
c.340G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."