Varaico: Literature-Extracted Genetic Variants

Gene:FBXO8
Variant:p.N123K

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
Selected Variant
2 papers
NM_012180.3
p.N123K
c.369T>A
Surrounding Variants
1 paper
NM_012180.3
p.P127insFs
c.380_381insTC
1 paper
NM_012180.3
p.P127H
c.380C>A
1 paper
NM_012180.3
p.C119S
c.356G>C
1 paper
NM_012180.3
p.C119S
c.355T>A
1 paper
NM_012180.3
p.L128F
c.384A>T
1 paper
NM_012180.3
p.K113E
c.337A>G
1 paper
NM_012180.3
p.C112G
c.334T>G
1 paper
NM_012180.3
p.Y136F
c.407A>T
1 paper
NM_012180.3
p.T145A
c.433A>G
1 paper
NM_012180.3
p.L107F
c.319C>T
1 paper
NM_012180.3
p.L101I
c.301C>A
1 paper
NM_012180.3
p.A94D
c.281C>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."