Varaico: Literature-Extracted Genetic Variants

Gene:FBXO30

FBXO30

46 papers

RefSeq Summary

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquiti...

Pfam Domains

zf-TRAF_2aa 7–99UCSCTRAF-like zinc-finger
F-box_4aa 609–724UCSCF-box

Gene Aliases

HGNC Name

F-box protein 30

HGNC Alias Symbols

MGC21674; Fbx30

Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
5 papers
NM_032145.5
p.H583Q
c.1749T>G
5 papers
NM_032145.5
p.H583Q
c.1749T>A
3 papers
NM_032145.5
p.Q515L
c.1544A>T
2 papers
NM_032145.5
p.S8C
c.23C>G
2 papers
NM_032145.5
p.L312L
c.936A>G
2 papers
NM_032145.5
p.V375M
c.1123G>A
2 papers
NM_032145.5
p.T460I
c.1379C>T
1 paper
NM_032145.5
p.H49R
c.146A>G
1 paper
NM_032145.5
p.R73Q
c.218G>A
1 paper
NM_032145.5
p.S100G
c.298A>G
1 paper
NM_032145.5
p.D103Y
c.307G>T
1 paper
NM_032145.5
p.K105R
c.314A>G
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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."