Varaico: Literature-Extracted Genetic Variants

Gene:FBXO8

FBXO8

84 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

F-boxaa 71–110UCSCF-box domain
Sec7aa 135–313UCSCSec7 domain

Gene Aliases

HGNC Name

F-box protein 8

HGNC Alias Symbols

FBX8; FBS

Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
2 papers
NM_012180.3
p.N123K
c.369T>A
2 papers
NM_012180.3
p.L269I
c.805C>A
1 paper
NM_012180.3
p.M1T
c.2T>C
1 paper
NM_012180.3
p.W6*
c.17G>A
1 paper
NM_012180.3
p.W6*
c.18G>A
1 paper
NM_012180.3
p.Q16*
c.46C>T
1 paper
NM_012180.3
p.E17K
c.49G>A
1 paper
NM_012180.3
p.S20N
c.59G>A
1 paper
NM_012180.3
p.R31R
c.93G>A
1 paper
NM_012180.3
p.M33R
c.98T>G
1 paper
NM_012180.3
p.R44H
c.131G>A
1 paper
NM_012180.3
p.I53K
c.158T>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."