Varaico: Literature-Extracted Genetic Variants

Gene:FBXO30
Variant:p.A386G

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.A386G
c.1157C>G
Surrounding Variants
2 papers
NM_032145.5
p.V375M
c.1123G>A
1 paper
NM_032145.5
p.W367*
c.1101G>A
1 paper
NM_032145.5
p.W367*
c.1100G>A
1 paper
NM_032145.5
p.T408A
c.1222A>G
1 paper
NM_032145.5
p.P417S
c.1249C>T
1 paper
NM_032145.5
p.G419D
c.1256G>A
1 paper
NM_032145.5
p.S329I
c.986G>T
1 paper
NM_032145.5
p.R447C
c.1339C>T
1 paper
NM_032145.5
p.S321L
c.962C>T
2 papers
NM_032145.5
p.L312L
c.936A>G
2 papers
NM_032145.5
p.T460I
c.1379C>T
1 paper
NM_032145.5
p.L312V
c.934T>G
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