Varaico: Literature-Extracted Genetic Variants

Gene:FBXO3
Variant:p.R216*

FBXO3

48 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 13–55UCSCF-box domain
SMI1_KNR4aa 121–251UCSCSMI1 / KNR4 family (SUKH-1)
DUF525aa 294–384UCSCApaG domain

Gene Aliases

HGNC Name

F-box protein 3

HGNC Alias Symbols

FBX3; FBA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012175.4
p.R216*
c.646C>T
Surrounding Variants
2 papers
NM_012175.4
p.V221I
c.661G>A
1 paper
NM_012175.4
p.P195L
c.584C>T
1 paper
NM_012175.4
p.L194I
c.580C>A
1 paper
NM_012175.4
p.G183R
c.547G>C
1 paper
NM_012175.4
p.G183R
c.547G>A
1 paper
NM_012175.4
p.D178N
c.532G>A
1 paper
NM_012175.4
p.N167D
c.499A>G
1 paper
NM_012175.4
p.S166A
c.496T>G
1 paper
NM_012175.4
p.P157S
c.469C>T
1 paper
NM_012175.4
p.A132G
c.395C>G
1 paper
NM_012175.4
p.T281A
c.841A>G
1 paper
NM_012175.4
p.P301L
c.902C>T
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