Varaico: Literature-Extracted Genetic Variants

Gene:FBXO43
Variant:p.S192R

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.S192R
c.576C>G
Surrounding Variants
1 paper
NM_001029860.4
p.A194T
c.580G>A
1 paper
NM_001029860.4
p.G196S
c.586G>A
1 paper
NM_001029860.4
p.S195delFs
c.585delT
1 paper
NM_001029860.4
p.S198F
c.593C>T
1 paper
NM_001029860.4
p.R199K
c.596G>A
1 paper
NM_001029860.4
p.N185K
c.555C>G
1 paper
NM_001029860.4
p.N185K
c.555C>A
1 paper
NM_001029860.4
p.N201_N202insFs
c.603_604insG
1 paper
NM_001029860.4
p.Q182_V183delFs
c.546_547delCT
1 paper
NM_001029860.4
p.N202H
c.604A>C
1 paper
NM_001029860.4
p.Q182*
c.544C>T
1 paper
NM_001029860.4
p.L206delFs
c.616delA
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