Varaico: Literature-Extracted Genetic Variants

Gene:FBXO2
Variant:p.E228Q

FBXO2

56 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-box-likeaa 47–94UCSCF-box-like
FBAaa 114–294UCSCF-box associated region

Gene Aliases

HGNC Name

F-box protein 2

HGNC Previous Symbol

OCP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012168.6
p.E228Q
c.682G>C
Surrounding Variants
1 paper
NM_012168.6
p.V230L
c.688G>T
1 paper
NM_012168.6
p.V230L
c.688G>C
1 paper
NM_012168.6
p.A232S
c.694G>T
1 paper
NM_012168.6
p.A240T
c.718G>A
1 paper
NM_012168.6
p.V241M
c.721G>A
1 paper
NM_012168.6
p.D212A
c.635A>C
1 paper
NM_012168.6
p.S211R
c.633C>G
1 paper
NM_012168.6
p.S211R
c.633C>A
1 paper
NM_012168.6
p.D244E
c.732C>A
1 paper
NM_012168.6
p.S211R
c.631A>C
1 paper
NM_012168.6
p.W206*
c.618G>A
1 paper
NM_012168.6
p.W206*
c.617G>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."