Varaico: Literature-Extracted Genetic Variants

Gene:FBXO30
Variant:p.H583Q

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
5 papers
NM_032145.5
p.H583Q
c.1749T>A
Surrounding Variants
5 papers
NM_032145.5
p.H583Q
c.1749T>G
1 paper
NM_032145.5
p.R582C
c.1744C>T
1 paper
NM_032145.5
p.G588R
c.1762G>C
1 paper
NM_032145.5
p.G588R
c.1762G>A
1 paper
NM_032145.5
p.Y560C
c.1679A>G
1 paper
NM_032145.5
p.H609R
c.1826A>G
1 paper
NM_032145.5
p.I543L
c.1627A>C
1 paper
NM_032145.5
p.R529K
c.1586G>A
3 papers
NM_032145.5
p.Q515L
c.1544A>T
1 paper
NM_032145.5
p.K514R
c.1541A>G
1 paper
NM_032145.5
p.W661S
c.1982G>C
1 paper
NM_032145.5
p.G662fs
c.1984_1985fs
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