Varaico: Literature-Extracted Genetic Variants

Gene:FBXO2
Variant:p.V58L

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
2 papers
NM_012168.6
p.V58L
c.172G>C
Surrounding Variants
2 papers
NM_012168.6
p.V58L
c.172G>T
1 paper
NM_012168.6
p.A60A
c.180C>T
2 papers
NM_012168.6
p.L47V
c.139C>G
5 papers
NM_012168.6
p.A45ins1
c.134_135insCGC
3 papers
NM_012168.6
p.A44_A45ins0
c.132_134dupCGC
1 paper
NM_012168.6
p.A44_A45ins1
c.132_133insCCC
1 paper
NM_012168.6
p.A44A
c.132C>A
1 paper
NM_012168.6
p.A43fs
c.127_128fs
1 paper
NM_012168.6
p.A43insFs
c.128_129insGC
1 paper
NM_012168.6
p.A42G
c.125C>G
1 paper
NM_012168.6
p.A41_A42ins1
c.123_124insGCC
1 paper
NM_012168.6
p.L76P
c.227T>C
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