Varaico: Literature-Extracted Genetic Variants

Gene:FBXO2
Variant:p.L123_L124insGCC

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.L123_L124insGCC
c.367_371ins9
Surrounding Variants
1 paper
NM_012168.6
p.R121S
c.361C>A
6 papers
NM_012168.6
p.K118T
c.353A>C
1 paper
NM_012168.6
p.C128_G129insGC
c.382_386ins6
1 paper
NM_012168.6
p.D108_H109insCAG
c.322_326ins9
1 paper
NM_012168.6
p.G96R
c.286G>C
1 paper
NM_012168.6
p.G96R
c.286G>A
1 paper
NM_012168.6
p.Q94*
c.280C>T
1 paper
NM_012168.6
p.V82L
c.244G>T
1 paper
NM_012168.6
p.V82L
c.244G>C
1 paper
NM_012168.6
p.L76P
c.227T>C
1 paper
NM_012168.6
p.A60A
c.180C>T
2 papers
NM_012168.6
p.V58L
c.172G>T
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