Varaico: Literature-Extracted Genetic Variants

Gene:FBXO43
Variant:p.G255S

FBXO43

51 papers

RefSeq Summary

Members of the F-box protein family, such as FBXO43, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-b...

Pfam Domains

FBXO43_HTHaa 440–482UCSCFBXO43 helix-turn-helix domain
F-boxaa 507–543UCSCF-box domain

Gene Aliases

HGNC Name

F-box protein 43

HGNC Alias Symbol

Fbx43

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001029860.4
p.G255S
c.763G>A
Surrounding Variants
1 paper
NM_001029860.4
p.D260N
c.778G>A
1 paper
NM_001029860.4
p.I250L
c.748A>T
1 paper
NM_001029860.4
p.I250L
c.748A>C
1 paper
NM_001029860.4
p.F266_S267insFs
c.798_799insG
1 paper
NM_001029860.4
p.F266delFs
c.797delA
1 paper
NM_001029860.4
p.D240_D241delFs
c.720_723del4
1 paper
NM_001029860.4
p.K239insFs
c.715dupA
1 paper
NM_001029860.4
p.K239delFs
c.716delT
1 paper
NM_001029860.4
p.S269_L271delFs
c.805_812del8
1 paper
NM_001029860.4
p.D275Y
c.823G>T
1 paper
NM_001029860.4
p.T232S
c.695C>G
1 paper
NM_001029860.4
p.F227insFs
c.680dupT
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