Varaico: Literature-Extracted Genetic Variants

Gene:FBXO30
Variant:p.Q129R

FBXO30

46 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

zf-TRAF_2aa 7–99UCSCTRAF-like zinc-finger
F-box_4aa 609–724UCSCF-box

Gene Aliases

HGNC Name

F-box protein 30

HGNC Alias Symbols

MGC21674; Fbx30

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032145.5
p.Q129R
c.386A>G
Surrounding Variants
1 paper
NM_032145.5
p.D113Y
c.337G>T
1 paper
NM_032145.5
p.S106fs
c.316_317fs
1 paper
NM_032145.5
p.S106delFs
c.317delG
1 paper
NM_032145.5
p.K105R
c.314A>G
1 paper
NM_032145.5
p.D103Y
c.307G>T
1 paper
NM_032145.5
p.S100G
c.298A>G
1 paper
NM_032145.5
p.R73Q
c.218G>A
1 paper
NM_032145.5
p.R205K
c.614G>A
1 paper
NM_032145.5
p.H49R
c.146A>G
2 papers
NM_032145.5
p.S8C
c.23C>G
1 paper
NM_032145.5
p.N256D
c.766A>G
1 paper
NM_032145.5
p.S266L
c.797C>T
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